Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.
Am J Med Genet
; 27(4): 781-6, 1987 Aug.
Article
en En
| MEDLINE
| ID: mdl-3122568
ABSTRACT
Interstitial deletions of 3q have, to our knowledge, been reported in only four patients. We present an additional patient with interstitial deletion of 3q, with breakpoints at 3q23 and 3q25. The patient was small for gestational age and had a multiple congenital anomalies (MCA) syndrome including microcephaly; unusual facial appearance with bilateral microphthalmia, blepharophimosis, and ptosis; ventricular septal defect; and bilateral clubfeet. Comparison between the clinical and cytogenetic findings of the present case and those of previously reported cases suggests that a recognizable phenotype may be associated with deletions of 3q2.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 3
/
Anomalías del Ojo
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Deleción Cromosómica
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Defectos del Tabique Interventricular
/
Microcefalia
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Am J Med Genet
Año:
1987
Tipo del documento:
Article