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Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy


Schinzel, Albert; Hayashi, Kaori; Schmid, Werner (1974). Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy. Human Genetics, 25(3):171-177.

Abstract

Mosaicism for an extra chromosome 9 was found in an underweight male newborn with multiple malformations. Clinical findings included a peculiar face with hypertelorism, mongoloid position of the eyes, narrow palpebral fissures, enophthalmos, broadbased nose with bulbous tip, high-arched palate, short mandible, dysmorphic ears with a unilateral preauricular tag, thoracic kyphosis, 13 ribs bilaterally, cryptorchidism, flexion position of the hands and fingers, muscular hypotonia, and severe psychomotor retardation. An additional chromosome 9 was found in half of the lymphocyte mitoses, but not in fibroblasts. In addition, pericentric inversion of the heterochromatic segment of 1 chromosome 9 was found in the mother and the diploid cells of the patient; the patient's trisomic cells exhibited 2 inversion chromosomes.

Abstract

Mosaicism for an extra chromosome 9 was found in an underweight male newborn with multiple malformations. Clinical findings included a peculiar face with hypertelorism, mongoloid position of the eyes, narrow palpebral fissures, enophthalmos, broadbased nose with bulbous tip, high-arched palate, short mandible, dysmorphic ears with a unilateral preauricular tag, thoracic kyphosis, 13 ribs bilaterally, cryptorchidism, flexion position of the hands and fingers, muscular hypotonia, and severe psychomotor retardation. An additional chromosome 9 was found in half of the lymphocyte mitoses, but not in fibroblasts. In addition, pericentric inversion of the heterochromatic segment of 1 chromosome 9 was found in the mother and the diploid cells of the patient; the patient's trisomic cells exhibited 2 inversion chromosomes.

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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, Thoracic Kyphosis, Cryptorchidism, Pericentric Inversion, Extra Chromosome, Palpebral Fissure
Language:English
Date:1 January 1974
Deposited On:27 Jan 2023 11:03
Last Modified:28 Apr 2024 01:47
Publisher:Springer
ISSN:0340-6717
Additional Information:Prof. Alfred Schinzel zum 70. Geburtstag.
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00281424
PubMed ID:4141334
Other Identification Number:Corpus ID: 7861710