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
em 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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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 3
/
Anormalidades do Olho
/
Deleção Cromossômica
/
Comunicação Interventricular
/
Microcefalia
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1987
Tipo de documento:
Article