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Partial Deletion of 1q, Following a Pericentric Inversion, in a Boy with Multiple Minor Morphologic Anomalies and Mental Retardation

Published online by Cambridge University Press:  27 January 2025

G. Schwanitz ,
P. Schmid ,
CH. Hägele ,
H. W. Daffner  and
K.-P. Grosse
G. Schwanitz*
Affiliation:
Department of Human Genetics and Anthropology, and Department of Pediatrics, University of Erlangen-Nürnberg, GFR
P. Schmid
Affiliation:
Department of Human Genetics and Anthropology, and Department of Pediatrics, University of Erlangen-Nürnberg, GFR
CH. Hägele
Affiliation:
Department of Human Genetics and Anthropology, and Department of Pediatrics, University of Erlangen-Nürnberg, GFR
H. W. Daffner
Affiliation:
Department of Human Genetics and Anthropology, and Department of Pediatrics, University of Erlangen-Nürnberg, GFR
K.-P. Grosse
Affiliation:
Department of Human Genetics and Anthropology, and Department of Pediatrics, University of Erlangen-Nürnberg, GFR
*
Institut für Humangenetik und, Anthropologie der Universität Erlangen-Nürnberg, Bismarckstrasse 10, 8520 Erlangen, GFR

Abstract

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In a 3¾ year old boy with mental and physical retardation, a chromosome analysis from lymphocyte cultures revealed a partial deletion of chromosome 1q following a pericentric inversion. The chromosomes of the parents were normal. The clinical picture of the patient included the following characteristics: prominent occiput, small chin, deep-seated and dysplastic ears, abnormal vortices of the hair, divided tip of the tongue, high palate, small finger and toe nails, inguinal hernia both sides, undescended but normal sized testes, hypotonic musculature and overextensible joints, retardation of ossification in the left hand by 6-12 months, slight osteoporosis, EQ~0.5.

Type
Short Notes/Note Brevi/Communications Brèves/Kurze Mitteilungen
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 26 , Issue 2 , April 1977 , pp. 173 - 175
Copyright
Copyright © The International Society for Twin Studies 1977