Male infant with cat cry syndrome and apparent absence of the Y chromosome.

European journal of pediatrics ·Vol. 133 ·No. 3 ·1980-05-00 ·Pages 293-6

Tolksdorf M, Kunze J, Rossius H, Chiyo H

Abstract

We report a boy with cri-du-chat syndrome and apparent absence of the Y chromosome. The karyotype is interpreted as 45,X,del(5)(qter leads to p13:). The boy has normal male external genitalia and bilateral testes although no Y chromosome was found in lymphocytes or fibroblasts.

MeSH Terms

Cri-du-Chat Syndrome/genetics Fibroblasts Humans Infant Karyotyping Lymphocytes Male Phenotype Sex Chromosome Aberrations Sex Chromosomes Y Chromosome

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Tolksdorf M

Kunze J

Rossius H

Chiyo H

References (5)

5 references, click to expand

XO and male phenotype.
Am J Dis Child. 1974 Jul;128(1):90-1 PMID: 4834988
Male with 45,X karyotype.
Clin Genet. 1977 Aug;12(2):97-100 PMID: 891018
The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.
Hum Genet. 1978 Nov 16;44(3):227-75 PMID: 365706
Translocation Y/5 resulting in Cri du Chat syndrome.
Clin Genet. 1977 Dec;12(6):319-22 PMID: 589854
[3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].
C R Hebd Seances Acad Sci. 1963 Nov 18;257:3098-102 PMID: 14095841

Article Info

Journal

European journal of pediatrics

Abbr.

Eur J Pediatr

ISSN

0340-6199

DOI

10.1007/BF00496093

Published

1980-05-00

Pages

293-6

Language

English

Region

Germany

NLM ID

7603873

Subset

External Links

PubMed source DOI: 10.1007/BF00496093 View journal details

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Male infant with cat cry syndrome and apparent absence of the Y chromosome.

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