Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
Am J Med Genet
; 57(1): 52-6, 1995 May 22.
Article
em En
| MEDLINE
| ID: mdl-7645598
ABSTRACT
Partial deletion of the short arm of chromosome 9 (p24-->pter) and partial duplication of the long arm of chromosome 5 (q32-->qter) were observed in an abnormal boy who died at age 8 weeks of a complex cyanotic cardiac defect. He also had minor anomalies, sagittal craniosynostosis, triphalangeal thumbs, hypospadias, and a bifid scrotum. Two other infants with similar cytogenetic abnormalities were described previously. These patients had severe congenital heart defect, genitourinary anomalies, broad nasal bridge, low hairline, apparently low-set ears, short neck, and triphalangeal thumbs, in common with our patient. We suggest that combined monosomy 9p23,24-->pter and trisomy 5q31,32-->qter may constitute a clinically recognizable syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Anormalidades Múltiplas
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Cromossomos Humanos Par 5
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Cromossomos Humanos Par 9
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Cardiopatias Congênitas
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Monossomia
Limite:
Humans
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Male
/
Newborn
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article