18p-

Last updated
18p-
Other namesMonosomy 18p, deletion 18p syndrome, del(18p) syndrome, partial monosomy 18p, de Grouchy syndrome 1
Cebocephaly (2).png
4-month-old girl with cebocephaly as a result of 18p-
Specialty Medical genetics

18p-, also known as monosomy 18p, deletion 18p syndrome, del(18p) syndrome, partial monosomy 18p, or de Grouchy syndrome 1, is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births. [1]

Contents

Patients typically have petite frames, a short neck, and a distinctive stance. They may have mild microcephaly, a round, flat, expressionless face, a broad, flat nasal bridge, horizontal palpebral fissures, epicanthal folds, strabismus, and ptosis of the eyelids. The syndrome can lead to muscle hypotonia and a slowdown in activity and movements. Mental impairment is common, with an average intelligence quotient (IQ) ranging from 25 to 75. Holoprosencephaly (HPE) is the primary abnormality, characterized by aberrant development of the midface and forebrain. Severe brain anomalies are linked to facial traits, while milder variants may have minor facial abnormalities. Skeletal abnormalities, such as coxa vara, hip dislocation, scoliosis, and foot deformities, have been documented. Growth hormone (GH) insufficiency is often detected in individuals with short stature, and serum immunoglobulin A levels may be low or absent. Other conditions include alopecia areata, hypotrichosis simplex, and keratosis pilaris and ulerythema ophryogenes.

Cytogenetic study is crucial for a definitive diagnosis of 18p deletion syndrome, as phenotype alone cannot support the diagnosis. Typically, peripheral blood karyotype analysis is used, and can also come from trophoblast cells or amniocytes during the perinatal stage. Different syndromes, like Turner syndrome or trisomy 21, may be associated with 18p deletion.

Deletion 18p syndrome has no specific treatment but is often treated with speech therapy and physical therapy for hypotonia. Severe brain abnormalities lead to poor prognosis and neonatal death, while patients without severe abnormalities have a better chance of survival. Early rehabilitative and educational interventions are recommended.

Signs and symptoms

18p- causes a wide range of medical and developmental concerns. There is significant variation in severity. This variation is due to the variability of the deletion size and breakpoints. [2]

Patients typically have petite frames, a short neck, and a distinctive stance in which they lean slightly forward while standing with their legs spread wide. There can be mild microcephaly present. Important traits include a round, flat, and expressionless face, a broad, flat nasal bridge, horizontal palpebral fissures, epicanthal folds, strabismus, and, when present, mostly ptosis of the eyelids. Ptosis may need to be surgically corrected and can be unilateral or bilateral. The lower lip is frequently everted, the mouth is large, the philtrum is somewhat short and projecting, and Cupid's bow is blunted with a flat upper lip. The palate may be highly arched, the lateral incisors are occasionally absent, and the poorly positioned teeth have severe caries. In children, the chin is little and somewhat receding; in adults, it becomes normal or even protrudes. Large and floppy, with disconnected pinnae and a hypoplastic anthelix, the ears are frequently low-set and turned posteriorly. The hands lack distinctive dermatoglyphics and are broad and short with phalanges that decline in width. Often indicative of Turner syndrome are a large chest with widely separated nipples or pectus excavatum, a short, occasionally webbed neck, and a low posterior hair line. Muscle hypotonia is a common condition. In most situations, puberty is normal, and conception is conceivable. [1]

Mental impairment is common. Although some individuals have been found to have normal or borderline mental development, the average intelligence quotient (IQ) ranges from 25 to 75, with most cases falling between 50 and 75. Verbal and motor abilities are often greatly dissociated, and speech delay is common. [1] There has been a noticeable slowdown in activity and movements. [3] [4] Sometimes, behavioral traits like schizophrenia or autism exacerbate the mental illness. [1] Rarely are convulsive fits or electroencephalographic (EEG) abnormalities seen. [5]

Holoprosencephaly (HPE), the primary abnormality, is characterized by aberrant development of the midface and forebrain and is linked to a wide range of phenotypes. [6] Ten to fifteen percent of deletion 18p syndrome sufferers have severe brain anomalies linked to facial traits as cyplopia, cebocephaly, premaxillary agenesis, and bilateral cleft lip and palate. [7] [8] [9] In milder variants, there may or may not be a brain abnormality present along with minor facial abnormalities such as flat nasal bridge, hypo- or hypertelorism, agenesis of the corpus callosum, and absence of the olfactory pathways and bulbs. [1] In 18p-syndrome, a single central maxillary incisor has frequently been reported as an abortive type of holoprosencephaly. [10]

Numerous skeletal abnormalities, including coxa vara, hip dislocation, scoliosis and/or kyphosis, and foot deformities, have been documented. On rare occasions, males may have cryptorchidism and genital hypoplasia with a small penis. [1] About 10% of individuals had cardiac anomalies, which seemed to be a very uncommon occurrence, with situs abnormalities occurring in few situations. [11] Rarely or sporadically, a number of other abnormalities have been documented, most frequently for deletion 18p due to an imbalanced translocation and concurrent partial trisomy. [1]

Growth hormone (GH) insufficiency is often detected in people with short stature, which may support GH treatment. [12] Serum immunoglobulin A (IgA) levels may be low or absent. [13] There have been reports of juvenile diabetes, thyrotoxicosis, thyroiditis resulting in insufficiency, [14] and other auto-immune illnesses. [1]

There have been reports of alopecia areata, hypotrichosis simplex, [15] [7] and other uncommon cutaneous conditions like keratosis pilaris and ulerythema ophryogenes. [16] [17] A movement disorder called dystonia can manifest in early adulthood. [18] [19]

Causes

A single chromosome 18's short arm may be absent entirely or in part, resulting in deletion 18p syndrome. To find out if one parent has the unbalanced 18p- deletion or is a balanced translocation carrier, it is necessary to examine their parental karyotypes. About two thirds of cases include de novo deletions. [1]

In majority of the other cases that have been documented, the cause is an imbalanced whole arm translocation, which typically takes place between the long arms of acrocentric and chr 18 chromosomes, giving rise to a karyotype with 45 chromosomes. [20] Additional erasures 18p are the result of a partial trisomy for another chromosome and the malsegregation of a balanced paternal translocation with a variable breakpoint on 18p. Subtelomeric screening has revealed certain cryptic subtelomeric deletions or translocations. [21] [22]

There have been at least six occurrences of documented familial transmission of 18p- from one parent to the kid, the majority of which included a maternal transfer. [23] [24]

Sometimes 18p is deleted as part of the ring 18 chromosome, [25] and other times it results from recombination in a pericentric inversion that causes an 18p monosomy linked to an 18q trisomy. [26]

Diagnosis

A definitive diagnosis of 18p deletion syndrome requires cytogenetic study, as the phenotype alone cannot be used to support the diagnosis. [27] Typically, peripheral blood karyotype analysis is used to make the diagnosis. It can also come from trophoblast cells or amniocytes during the perinatal stage. [1]

Many different syndromes that manifest as low stature and moderate mental impairment may be included in the differential diagnosis. Turner syndrome or trisomy 21 may be loosely associated with 18p deletion in young children. Cytogenetic analysis always enables the correct diagnosis. [27]

Treatment

Like other chromosomal diseases, deletion 18p syndrome has no known specific treatment; however, since most patients experience significant speech issues and difficulties with speech articulation, early rehabilitative and educational interventions, primarily speech therapy, are advised. For hypotonia, physical therapy is often suggested. [1]

Outlook

Patients with severe brain abnormalities typically have a poor prognosis and die during the neonatal period. [1] When severe abnormalities are absent, patients with the most prevalent form of deletion 18p syndrome do not appear to have a worse chance of survival. [28]

Epidemiology

18p- occurs about once in 50,000 live births, with a female to male ratio of 3:1. [29]

Related Research Articles

<span class="mw-page-title-main">Autosome</span> Any chromosome other than a sex chromosome

An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA.

Miller–Dieker syndrome, Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized by congenital malformations. Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body including the brain, hearts, lungs, liver, bones, or intestinal tract. MDS is a contiguous gene syndrome – a disorder due to the deletion of multiple gene loci adjacent to one another. The disorder arises from the deletion of part of the small arm of chromosome 17p, leading to partial monosomy. There may be unbalanced translocations, or the presence of a ring chromosome 17.

<span class="mw-page-title-main">Wolf–Hirschhorn syndrome</span> Chromosomal deletion syndrome

Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 [del(4)(p16.3)]. Features include a distinct craniofacial phenotype and intellectual disability.

<span class="mw-page-title-main">Cri du chat syndrome</span> Human medical condition

Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.

Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. The deletion may range from 5 million to 16 million deleted DNA base pairs. The severity of symptoms depends on the number of deletions; the more deletions there are, the more severe the symptoms are likely to be.

<span class="mw-page-title-main">Small supernumerary marker chromosome</span> Abnormal partial or mixed chromosome

A small supernumerary marker chromosome (sSMC) is an abnormal extra chromosome. It contains copies of parts of one or more normal chromosomes and like normal chromosomes is located in the cell's nucleus, is replicated and distributed into each daughter cell during cell division, and typically has genes which may be expressed. However, it may also be active in causing birth defects and neoplasms. The sSMC's small size makes it virtually undetectable using classical cytogenetic methods: the far larger DNA and gene content of the cell's normal chromosomes obscures those of the sSMC. Newer molecular techniques such as fluorescence in situ hybridization, next generation sequencing, comparative genomic hybridization, and highly specialized cytogenetic G banding analyses are required to study it. Using these methods, the DNA sequences and genes in sSMCs are identified and help define as well as explain any effect(s) it may have on individuals.

<span class="mw-page-title-main">Isochromosome</span> Chromosome abnormality

An isochromosome is an unbalanced structural abnormality in which the arms of the chromosome are mirror images of each other. The chromosome consists of two copies of either the long (q) arm or the short (p) arm because isochromosome formation is equivalent to a simultaneous duplication and deletion of genetic material. Consequently, there is partial trisomy of the genes present in the isochromosome and partial monosomy of the genes in the lost arm.

<span class="mw-page-title-main">Polysomy</span> Abnormal multiples of one or more chromosomes

Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. Most eukaryotic species are diploid, meaning they have two sets of chromosomes, whereas prokaryotes are haploid, containing a single chromosome in each cell. Aneuploids possess chromosome numbers that are not exact multiples of the haploid number and polysomy is a type of aneuploidy. A karyotype is the set of chromosomes in an organism and the suffix -somy is used to name aneuploid karyotypes. This is not to be confused with the suffix -ploidy, referring to the number of complete sets of chromosomes.

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Monosomy 9p is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23). This deletion either happens de novo or as a result of a parent having the chromosome abnormality. This rare chromosomal abnormality is often diagnosed after birth when developmental delay, irregular facial features, structural irregularities within the heart, and genital defects are observed. Treatments for this syndrome usually focus on fixing the malformations that are commonly associated with it. The cause of the syndrome was first discovered in 1973, when an analysis of the chromosomes of three infants with similar clinical abnormalities revealed that they all had a partial deletion of the short arm of Chromosome 9. Symptoms include micro genitalia, intellectual disability with microcephaly and dysmorphic features.

A dicentric chromosome is an abnormal chromosome with two centromeres. It is formed through the fusion of two chromosome segments, each with a centromere, resulting in the loss of acentric fragments and the formation of dicentric fragments. The formation of dicentric chromosomes has been attributed to genetic processes, such as Robertsonian translocation and paracentric inversion. Dicentric chromosomes have important roles in the mitotic stability of chromosomes and the formation of pseudodicentric chromosomes. Their existence has been linked to certain natural phenomena such as irradiation and have been documented to underlie certain clinical syndromes, notably Kabuki syndrome. The formation of dicentric chromosomes and their implications on centromere function are studied in certain clinical cytogenetics laboratories.

<span class="mw-page-title-main">22q13 deletion syndrome</span> Rare genetic syndrome

22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome. There is disagreement among researchers as to the exact definition of 22q13 deletion syndrome. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that appears to exclude terminal deletions. The requirement to include SHANK3 in the definition is supported by many but not by those who first described 22q13 deletion syndrome.

<span class="mw-page-title-main">1p36 deletion syndrome</span> Medical condition

1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.

A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing.

<span class="mw-page-title-main">Trisomy 22</span> Medical condition

Trisomy 22 is a chromosomal disorder in which three copies of chromosome 22 are present rather than two. It is a frequent cause of spontaneous abortion during the first trimester of pregnancy. Progression to the second trimester and live birth are rare. This disorder is found in individuals with an extra copy or a variation of chromosome 22 in some or all cells of their bodies.

Virtual karyotype is the digital information reflecting a karyotype, resulting from the analysis of short sequences of DNA from specific loci all over the genome, which are isolated and enumerated. It detects genomic copy number variations at a higher resolution for level than conventional karyotyping or chromosome-based comparative genomic hybridization (CGH). The main methods used for creating virtual karyotypes are array-comparative genomic hybridization and SNP arrays.

<span class="mw-page-title-main">Young–Madders syndrome</span> Genetic disorder

Young–Madders syndrome, alternatively known as Pseudotrisomy 13 syndrome or holoprosencephaly–polydactyly syndrome, is a genetic disorder resulting from defective and duplicated chromosomes which result in holoprosencephaly, polydactyly, facial malformations and intellectual disability, with a significant variance in the severity of symptoms being seen across known cases. Many cases often suffer with several other genetic disorders, and some have presented with hypoplasia, cleft lip, cardiac lesions and other heart defects. In one case in 1991 and another in 2000 the condition was found in siblings who were the product of incest. Many cases are diagnosed prenatally and often in siblings. Cases are almost fatal in the prenatal stage with babies being stillborn.

XK aprosencephaly is an extremely rare congenital disorder characterized by the absence of the embryonic forebrain. Because the prosencephalon gives way to the cerebral cortex, survival with aprosencephaly is not possible outside utero. The external symptoms are similar to holoprosencephaly, a related disorder, including a smaller than normal head (microcephaly), small eyeballs (microphthalmia), a small mouth (microstomia), anal atresia, and abnormalities of the external genitalia, radius, nostrils, and pharynx (throat).

<span class="mw-page-title-main">Ring chromosome 15</span> Medical condition

Ring chromosome 15 is a condition that arises when chromosome 15 fuses to form a ring chromosome. Usually, ring chromosome 15 forms due to the modification or deletion of genetic information on chromosome 15 in the preliminary stages of embryonic development, but it can rarely also be inherited.

<span class="mw-page-title-main">Trisomy X</span> Chromosome disorder in women

Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.

References

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  2. ↑ Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, Rupert D, Perry B, Atkinson S, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE, Cody JD (2015). "A review of 18p deletions". Am J Med Genet C Semin Med Genet. 169 (3): 251–64. doi:10.1002/ajmg.c.31445. PMID   26250845. S2CID   20556694.
  3. ↑ Faust, J.; habedank, M.; Nieuwenhuijsen, C. (1976). "The 18 p- syndrome". European Journal of Pediatrics. 123 (1). Springer Science and Business Media LLC: 59–66. doi:10.1007/bf00497681. ISSN   0340-6997. PMID   954771.
  4. ↑ Wester, Ulrika; Bondeson, Marie-Louise; Edeby, Christina; Annerén, Göran (2006-05-11). "Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation". American Journal of Medical Genetics Part A. 140A (11). Wiley: 1164–1171. doi:10.1002/ajmg.a.31260. ISSN   1552-4825. PMID   16691587.
  5. ↑ Grosso, S.; Pucci, L.; Di Bartolo, R.M.; Gobbi, G.; Bartalini, G.; Anichini, C.; Scarinci, R.; Balestri, M.; Farnetani, M.A.; Cioni, M.; Morgese, G.; Balestri, P. (2005). "Chromosome 18 aberrations and epilepsy: A review". American Journal of Medical Genetics Part A. 134A (1). Wiley: 88–94. doi:10.1002/ajmg.a.30575. ISSN   1552-4825. PMID   15690352.
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  8. ↑ Münke, Maximilian; Page, David C.; Brown, Laura G.; Armson, B. Anthony; Zackai, Elaine H.; Mennuti, Michael T.; Emanuel, Beverly S. (1988). "Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male". Human Genetics. 80 (3). Springer Science and Business Media LLC: 219–223. doi:10.1007/bf01790089. ISSN   0340-6717. PMID   3192211.
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  10. ↑ Taine, L.; Goizet, C.; Wen, Z. Q.; Chateil, J. F.; Battin, J.; Saura, R.; Lacombe, D. (1997). "18p monosomy with midline defects and a de novo satellite identified by FISH". Annales de Genetique. 40 (3): 158–163. ISSN   0003-3995. PMID   9401105.
  11. ↑ MC, Digilio; B, Marino; A, Giannotti; R, Di Donato; B, Dallapiccola (2000). "Heterotaxy with left atrial isomerism in a patient with deletion 18p". American Journal of Medical Genetics. 94 (3). Am J Med Genet: 198–200. doi:10.1002/1096-8628(20000918)94:3<198::aid-ajmg4>3.0.co;2-9. ISSN   0148-7299. PMID   10995505 . Retrieved 2024-06-17.
  12. ↑ Schober, E.; Scheibenreiter, S.; Frisch, H. (1995). "18p monosomy with GH-deficiency and empty sella: good response to GH-treatment". Clinical Genetics. 47 (5). Wiley: 254–256. doi:10.1111/j.1399-0004.1995.tb04306.x. ISSN   0009-9163. PMID   7554351.
  13. ↑ Leisti, J; Leisti, S; Perheentupa, J; Savilahti, E; Aula, P (1973-04-01). "Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18". Archives of Disease in Childhood. 48 (4). BMJ: 320–322. doi:10.1136/adc.48.4.320. ISSN   0003-9888. PMC   1648328 . PMID   4705937.
  14. ↑ Dharmaraj, P; Grueters, A (2006). "The management of thyrotoxicosis in a pre-pubertal child with 18p deletion syndrome". European Journal of Endocrinology. 155 (suppl_1): S145–S147. doi:10.1530/eje.1.02274. ISSN   0804-4643.
  15. ↑ Kantaputra, Piranit N.; Limwongse, Chanin; Tochareontanaphol, Chintana; Mutirangura, Apiwat; Mevatee, Umnat; Praphanphoj, Verayuth (2006-09-25). "Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion". American Journal of Medical Genetics Part A. 140A (23). Wiley: 2598–2602. doi:10.1002/ajmg.a.31386. ISSN   1552-4825. PMID   17001671.
  16. ↑ Nazarenko, S. A.; Ostroverkhova, N. V.; Vasiljeva, E. O.; Nazarenko, L. P.; Puzyrev, V. P.; Malet, P.; Nemtseva, T. A. (1999-07-16). "Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation". American Journal of Medical Genetics. 85 (2): 179–182. doi:10.1002/(SICI)1096-8628(19990716)85:2<179::AID-AJMG14>3.0.CO;2-R. ISSN   0148-7299. PMID   10406673.
  17. ↑ ZOUBOULIS, C. C (2001-02-01). "Keratosis pilaris/ulerythema ophryogenes and 18p deletion: is it possible that the LAMA1 gene is involved?". Journal of Medical Genetics. 38 (2). BMJ: 127–128. doi:10.1136/jmg.38.2.127. ISSN   1468-6244. PMC   1734814 . PMID   11288714.
  18. ↑ Klein, C.; Page, C.E.; LeWitt, P.; Gordon, M.F.; de Leon, D.; Awaad, Y.; Breakefield, X.O.; Brin, M.F.; Ozelius, L.J. (1999). "Genetic analysis of three patients with an 18p− syndrome and dystonia". Neurology. 52 (3). Ovid Technologies (Wolters Kluwer Health): 649–651. doi:10.1212/wnl.52.3.649. ISSN   0028-3878. PMID   10025808.
  19. ↑ Nasir, Jamal; Frima, Nafsika; Pickard, Ben; Malloy, M. Pat; Zhan, Lingping; Grünewald, Richard (2006-06-06). "Unbalanced whole arm translocation resulting in loss of 18p in dystonia". Movement Disorders. 21 (6). Wiley: 859–863. doi:10.1002/mds.20846. ISSN   0885-3185. PMID   16541453.
  20. ↑ Wang, Jin-Chen C.; Nemana, L.; Kou, S. Y.; Habibian, R.; Hajianpour, M. J. (1997-09-05). "Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p". American Journal of Medical Genetics. 71 (4): 463–466. doi:10.1002/(SICI)1096-8628(19970905)71:4<463::AID-AJMG17>3.0.CO;2-E. PMID   9286456.
  21. ↑ Horsley, S W; Knight, S J; Nixon, J; Huson, S; Fitchett, M; Boone, R A; Hilton-Jones, D; Flint, J; Kearney, L (1998-09-01). "Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements". Journal of Medical Genetics. 35 (9). BMJ: 722–726. doi:10.1136/jmg.35.9.722. ISSN   1468-6244. PMC   1051423 . PMID   9733029.
  22. ↑ Babovic-Vuksanovic, Dusica; Jenkins, S.C.; Ensenauer, R.; Newman, D.C.; Jalal, S.M. (2003-06-30). "Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation". American Journal of Medical Genetics Part A. 124A (3). Wiley: 318–322. doi:10.1002/ajmg.a.20391. ISSN   1552-4825. PMID   14708108.
  23. ↑ Rigola, M.A.; Plaja, A.; Mediano, C.; Miro, R.; Egozcue, J.; Fuster, C. (2001). "Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis". American Journal of Medical Genetics. 104 (1). Wiley: 37–41. doi:10.1002/ajmg.1584. ISSN   0148-7299. PMID   11746025.
  24. ↑ Maranda, Bruno; Lemieux, Nicole; Lemyre, Emmanuelle (2006-07-14). "Familial deletion 18p syndrome: case report". BMC Medical Genetics. 7 (1). Springer Science and Business Media LLC: 60. doi: 10.1186/1471-2350-7-60 . ISSN   1471-2350. PMC   1540411 . PMID   16842614.
  25. ↑ P, Stankiewicz; I, Brozek; Z, Hélias-Rodzewicz; J, Wierzba; J, Pilch; E, Bocian; A, Balcerska; A, Wozniak; I, Kardaś; J, Wirth; T, Mazurczak; J, Limon (2001). "Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18". American Journal of Medical Genetics. 101 (3). Am J Med Genet: 226–239. doi:10.1002/1096-8628(20010701)101:3<226::aid-ajmg1349>3.0.co;2-#. ISSN   0148-7299. PMID   11424138 . Retrieved 2024-06-17.
  26. ↑ NJ, Leonard; DJ, Tomkins; N, Demianczuk (2000). "Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat". Prenatal Diagnosis. 20 (12). Prenat Diagn: 947–949. doi:10.1002/1097-0223(200012)20:12<947::aid-pd957>3.0.co;2-x. ISSN   0197-3851. PMID   11113905 . Retrieved 2024-06-17.
  27. 1 2 Jain, Mayuri; Goyal, Megha; Singhal, Sachin; Nandimath, Kirty (2017). "18p deletion syndrome: Case report with clinical consideration and management". Contemporary Clinical Dentistry. 8 (4). Medknow: 632–636. doi: 10.4103/ccd.ccd_129_17 . ISSN   0976-237X. PMC   5754987 . PMID   29326517.
  28. ↑ de Ravel, Thomy J.L.; Thiry, Paul; Fryns, Jean-Pierre (2005). "Follow-up of adult males with chromosome 18p deletion". European Journal of Medical Genetics. 48 (2). Elsevier BV: 189–193. doi:10.1016/j.ejmg.2005.01.024. ISSN   1769-7212. PMID   16053911.
  29. ↑ Choi, Ji Young; Moon, Ja Un; Yoon, Da Hye; Yim, Jisook; Kim, Myungshin; Jung, Min Ho (2022-07-01). "18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review". Children. 9 (7). MDPI AG: 987. doi: 10.3390/children9070987 . ISSN   2227-9067. PMC   9316892 . PMID   35883971.

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