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Incomplete trisomy 22 II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13)


Schinzel, Albert (1981). Incomplete trisomy 22 II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13). Human Genetics, 56(3):263-268.

Abstract

Two brothers with duplication of the distal segment of 22q inherited from a t(6;22)(q27;13) translocation carrier mother presented with intraurine growth retardation, congenital hydrocephalus, cleft palate, genital hypoplasia with cryptorchidism and hypospadias, and similar facial features including mongoloid position of eyeaxes, hypertelorism, small nose with prominent bridge, prominent upper lip, and small mandible. In addition the second sib revealed renal hypoplasia, arrhinencephaly and pentalogy of Fallot. The patients died at ages eight days and one day, respectively. The two brothers appear to be the first instances of familial trisomy 22q13→qter.

Abstract

Two brothers with duplication of the distal segment of 22q inherited from a t(6;22)(q27;13) translocation carrier mother presented with intraurine growth retardation, congenital hydrocephalus, cleft palate, genital hypoplasia with cryptorchidism and hypospadias, and similar facial features including mongoloid position of eyeaxes, hypertelorism, small nose with prominent bridge, prominent upper lip, and small mandible. In addition the second sib revealed renal hypoplasia, arrhinencephaly and pentalogy of Fallot. The patients died at ages eight days and one day, respectively. The two brothers appear to be the first instances of familial trisomy 22q13→qter.

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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, Internal Medicine, Metabolic Disease, Growth Retardation, Hydrocephalus, Facial Feature
Language:English
Date:1 February 1981
Deposited On:09 Apr 2024 07:04
Last Modified:10 Apr 2024 20:00
Publisher:Springer
ISSN:0340-6717
OA Status:Green
Publisher DOI:https://doi.org/10.1007/bf00274676
PubMed ID:7239509
  • Content: Published Version
  • Language: English