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Incomplete trisomy 22 I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families


Schinzel, Albert; Schmid, Werner; Auf der Maur, P; Moser, H; Degenhardt, K H; Geisler, M; Grubisic, A (1981). Incomplete trisomy 22 I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families. Human Genetics, 56(3):249-262.

Abstract

A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from nine personally observed patients and 22 cases from the literature with apparently the same aberration. Frequent findings include a characteristic face with deepset eyes, flat nose, prominent upper lip, receding mandible and preauricular pits or tags, male genital hypoplasia, anal atresia or other anomalies of the anus, cleft palate, and congenital heart defect. Less frequent are severe reduction of the auricles, an additional pair of ribs, and hypoplasia of the diaphragm. Perinatal mortality is high. Growth is usually and psychomotor development is invariably and severely delayed. Balanced 11/22 translocations are apparently disproportionally frequent; as the balanced rearrangement is not easy to detect, it is important to be aware of it at the family investigation of cases with extra chromosomes similar to a No.22 or 22q-.The unbalanced products are most probably trisomic for both a segment of 22 (22q-) and a distal segment of 11q; the exact determination of the breakpoints is not possible at present due to the similar banding characteristics of the two segments involved in the translocation.

Abstract

A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from nine personally observed patients and 22 cases from the literature with apparently the same aberration. Frequent findings include a characteristic face with deepset eyes, flat nose, prominent upper lip, receding mandible and preauricular pits or tags, male genital hypoplasia, anal atresia or other anomalies of the anus, cleft palate, and congenital heart defect. Less frequent are severe reduction of the auricles, an additional pair of ribs, and hypoplasia of the diaphragm. Perinatal mortality is high. Growth is usually and psychomotor development is invariably and severely delayed. Balanced 11/22 translocations are apparently disproportionally frequent; as the balanced rearrangement is not easy to detect, it is important to be aware of it at the family investigation of cases with extra chromosomes similar to a No.22 or 22q-.The unbalanced products are most probably trisomic for both a segment of 22 (22q-) and a distal segment of 11q; the exact determination of the breakpoints is not possible at present due to the similar banding characteristics of the two segments involved in the translocation.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Congenital Heart, Characteristic Face, Perinatal Mortality, Distal Segment, Cleft Palate
Language:English
Date:1 February 1981
Deposited On:27 Jan 2023 12:19
Last Modified:28 Apr 2024 01:47
Publisher:Springer
ISSN:0340-6717
Additional Information:Note Added in Proof After this paper was submitted, the authors were informed about 2 other papers on the same subject: 1. Fraccaro M, Lindsten J, Ford CE, et al.: The 11 q;22q translocation: A European collaborative analysis of 43 cases. Hum Genet 56 : 21-51 (1980). 2. Zackai EH, Emanuel BS: Site specific reciprocal translocation, t(ll;22)(q23;ql 1), in several unrelated families with 3:1 meiotic disjunction. In press in American Journal of Medical Genetics. Both papers confirm the high frequency of the 11;22 translocation, add very interesting clinical and epidemiological data, and arrive at about the same conclusions as the authors of the present study do. Authors: Prof. Dr. med. Werner Schmid (Director of the institute till 1996)
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00274675
PubMed ID:7239508
Other Identification Number:Corpus ID: 8690929