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

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.

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Bibliographische Detailangaben
Veröffentlicht in:	European journal of pediatrics 1980-05, Vol.133 (3), p.293-296
Hauptverfasser:	Tolksdorf, M, Kunze, J, Rossius, H, Chiyo, H
Format:	Artikel
Sprache:	eng
Schlagworte:	Cri-du-Chat Syndrome - genetics Fibroblasts Humans Infant Karyotyping Lymphocytes Male Phenotype Sex Chromosome Aberrations Sex Chromosomes Y Chromosome
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Beschreibung
Zusammenfassung:	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.
ISSN:	0340-6199 1432-1076
DOI:	10.1007/BF00496093