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Possible trisomy 1q25→1q32 in a malformed girl with a de novo insertion in 1q


Schinzel, Albert (1979). Possible trisomy 1q25→1q32 in a malformed girl with a de novo insertion in 1q. Human Genetics, 49(2):167-173.

Abstract

A newborn female is described who exhibited a characteristic facial dysmorphology including deep-set eyes, broad nasal bridge, small mouth, higharched and narrow palate, severely receding mandible and misshapen ears; constant flexion of the proximal interphalangeal joints, and short distal phalanges and nails of fingers; a congenital heart defect; marked muscular hypotonia, motor and growth retardation. She died at 4 months of age. Her karyotype revealed an additional band in 1q. Banding patterns and clinical picture suggest duplication of the segment 1q25→1q32.

Abstract

A newborn female is described who exhibited a characteristic facial dysmorphology including deep-set eyes, broad nasal bridge, small mouth, higharched and narrow palate, severely receding mandible and misshapen ears; constant flexion of the proximal interphalangeal joints, and short distal phalanges and nails of fingers; a congenital heart defect; marked muscular hypotonia, motor and growth retardation. She died at 4 months of age. Her karyotype revealed an additional band in 1q. Banding patterns and clinical picture suggest duplication of the segment 1q25→1q32.

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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, Congenital Heart, Clinical Picture
Language:English
Date:1 January 1979
Deposited On:25 Oct 2023 07:02
Last Modified:30 Mar 2024 04:47
Publisher:Springer
ISSN:0340-6717
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00277638
PubMed ID:468246
Other Identification Number:Corpus ID: 12516757