The 18 p- syndrome

Faust, J.; Habedank, M; Nieuwenhuijsen, Channah

doi:10.1007/bf00497681

Cited by 29 publications

(12 citation statements)

References 16 publications

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“…The only congenital malformation of the brain found in present study was a hydrocephalus and a Dandy Walker malformation (Case 6). Postnatal growth retardation has been reported as almost a constant feature of the 18p deletion [Faust et al, 1976;Kanjilial et al, 1988], but found in only 4/7 of present study, and none of them was extremely short.…”

Section: Discussionmentioning

confidence: 60%

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Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation

Wester

Bondeson

Edeby

et al. 2006

American J of Med Genetics Pt A

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The deletion 18p syndrome is one of the most common chromosome abnormalities. The medical problems are mental and postnatal growth retardation, and sometimes malformations of the heart and brain. The individuals have some typical features, which might be easy to overlook and which are: ptosis, strabismus, hypertelorism, broad flat nose, micrognathia, big and low set ears. The aims of present study were to clinically and molecularly characterize the syndrome further in seven subjects with de novo 18p deletions and to perform genotype-phenotype correlation. All seven subjects had terminal deletions and no interstitial deletion was observed with subtelomeric FISH analyses. To define the extent of the 18p deletions and the parental origin of the deletion microsatellite- and FISH analyses were performed on genomic DNA and on lymphoblastoid cell lines of the study participants. Totally 19 chromosomes, 18 specific polymorphic microsatellite markers, and 5 BAC clones were used. The results revealed that the deletions were located in the centromeric region at 18p11.1 in four of the seven subjects. In the remaining three the breakpoints were located distal to 18p11.1 (18p11.21-p11.22). Four of the individuals had a paternal and three a maternal origin of the deletion. Genotype-phenotype correlation of the seven subjects suggests a correlation between the extent of the deleted region and the mental development. All the four children with a deletion in the centromeric region at 18p11.1 had a mental retardation (MR). Two of the three children with a more distal breakpoint (distal 18p11.21) had a normal mental development and one had a border-line mental retardation. There might be a critical region for the mental retardation located between 18p11.1 and 18p11.21. The children with a breakpoint at 18p11.1 had all a broad face, which was observed in only one of those with a more distal breakpoint, otherwise no genotype-phenotype correlation of the features was observed.

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Section: Discussionmentioning

confidence: 60%

“…The most specific features of present children were the ptosis and the slowness in motion and action [Faust et al, 1976;Thompson et al, 1986]. The ptosis was in three of present seven cases that severe that it had to be surgically corrected.…”

Section: Discussionmentioning

confidence: 86%

Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation

Wester

Bondeson

Edeby

et al. 2006

American J of Med Genetics Pt A

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“…Of more than 80 cases with 18p - (Faust et al, 1976), at least 12 cases were the result of a translocation involving chromosome 18 and one of the acrocentric chromosomes. Almost half of these cases had a carrier parent, and the remainder were de novo cases (Lurie and Lazjuk, 1972).…”

Section: Discussionmentioning

confidence: 99%

“…The phenotypic expression of 18pcases is variable: the common features are growth and mental deficiency, hypertelorism, epicanthic folds, and large, protruding, and low set ears (Faust et al, 1976). The association of arhinencephaly and cebocephaly with 1 8p -is also known (Lurie and Lazjuk, 1972).…”

mentioning

confidence: 99%

18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male.

Moedjono¹,

Funderburk²,

Sparkes³

1979

Journal of Medical Genetics

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“…Short stature and dental decay are common. Other skeletal, cardiac, renal, and fundal abnormalities have also been described [Faust et al, 1976;Schinzel et al, 1974;Pearl, 1989;Movahhedian et al, 1991;Anderson-Shotwell and Wilson, 19891. On the other hand, deletions of the long arm of chromosome 3 are extremely rare.…”

Section: Introductionmentioning

confidence: 87%

Mental retardation/shortness of stature/multiple minor anomalies syndrome associated with insertion of 3q material into 18p

al-Attia

Sedaghatian

1995

Am. J. Med. Genet.

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This is a case report of a 16-year-old Arab girl with mental subnormality, shortness of stature and multiple minor phenotypic anomalies. She is obese with normal secondary sexual characteristics, and has a speech deficit. Cytogenetic studies showed a 46,XX,dir ins (18;3)(p11.1;q13.2-->q25). The chromosome arrangement appeared balanced. Her condition is not a recognizable specific syndrome; thus, it remained unclear as to whether her condition is attributable to disruption of 3q or 18p or both. Further cytogenetic analysis by molecular biologists is required to solve this problem.

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The 18 p- syndrome

Cited by 29 publications

References 16 publications

Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation

Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation

18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male.

Mental retardation/shortness of stature/multiple minor anomalies syndrome associated with insertion of 3q material into 18p

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