Infant with multiple congenital anomalies and deletion (9)(q34.3)

We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down‐slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovaru...

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Veröffentlicht in:	American Journal of Medical Genetics 1994-06, Vol.51 (2), p.140-142
Hauptverfasser:	Schimmenti, Lisa A., Berry, Susan A., Tuchman, Mendel, Hirsch, Betsy
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences BIOLOGY AND MEDICINE, BASIC STUDIES CHROMOSOMAL ABERRATIONS chromosome 9 Chromosome aberrations Chromosome Deletion Chromosomes, Human, Pair 9 CONGENITAL MALFORMATIONS CYTOLOGICAL TECHNIQUES developmental delay Developmental Disabilities - genetics GENETIC MAPPING HUMAN CHROMOSOME 9 Humans Infant KARYOTYPE Karyotyping Male Medical genetics Medical sciences multiple congenital malformation partial monosomy 9q
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Zusammenfassung:	We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down‐slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3. © 1994 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320510211