Brief clinical report: duplication of distal 17q: report of an observation.
Am J Med Genet
; 17(3): 633-9, 1984 Mar.
Article
en En
| MEDLINE
| ID: mdl-6711615
ABSTRACT
We describe a boy with the syndrome due to dup(17q) resulting from a paternal balanced t(12;17) (q24;q23). The comparison of the clinical findings in our patient with those previously reported shows that the dup(17q23----qter) is associated with a clinically recognizable syndrome. Anomalies present in greater than or equal to 75% of the patients were severe psychomotor retardation; short stature; microcephaly; frontal bossing and temporal retraction; widow's peak; narrow palpebral fissures; flat nasal bridge; thin upper lip overlapping thin lower lip; downturned corners of the mouth; apparently low-set, posteriorly angulated and malformed ears; low posterior hairline; widely spaced nipples; cryptorchidism; proximal limb shortness; and hyperlaxity of limb joints. The translocation carrier father of our patient had a Poland anomaly.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Translocación Genética
/
Anomalías Múltiples
/
Cromosomas Humanos 16-18
/
Discapacidad Intelectual
Límite:
Adult
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1984
Tipo del documento:
Article