Child with multiple congenital anomalies and mosaicism 46, XX/46,XX, del (14)(q32.3)

We report on a female infant with multiple congenital anomalies and severe developmental delay in association with a rare, terminal deletion of chromosome 14 [karyotype:mosaic. 46,XX/46,XX del (14) (q32.3) = 36%:64%]. © 1992 Wiley‐Liss, Inc.

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics 1992-11, Vol.44 (5), p.635-637
Hauptverfasser:	Miller, Bruce Alan, Jayakar, Parul, Capó, Hilda
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences case reports chromosomal aberration chromosome 14 Chromosome aberrations Chromosome Deletion Chromosomes, Human, Pair 14 deletion Esophageal Atresia - genetics Eye Abnormalities - genetics Facial Bones - abnormalities Female human chromosome 14 Humans Infant, Newborn man Medical genetics Medical sciences mosaic mosaicism Mosaicism - genetics multiple congenital anomalies
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Beschreibung
Zusammenfassung:	We report on a female infant with multiple congenital anomalies and severe developmental delay in association with a rare, terminal deletion of chromosome 14 [karyotype:mosaic. 46,XX/46,XX del (14) (q32.3) = 36%:64%]. © 1992 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320440521