dup(4p 15→4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation

dup(4p 15→4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation

We describe a 19‐year‐old woman who has a duplication of 4p. The karyotype is 46,XX, – 14, + der(14),t(4;14) (p15;p12)mat in lymphocytes and skin fibroblasts. The patient has coarse hair, prominent forehead and tip of nose, coloboma, scoliosis, and mental retardation.

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Veröffentlicht in:American journal of medical genetics 1982-01, Vol.11 (1), p.37-42
Hauptverfasser: Clark, Constance E., Telfer, Mary A., Cowell, Henry R., Kalamchi, Ali, Steg, Nina L., Opitz, John M.
Format: Artikel
Sprache:eng
Schlagworte:
dup(4p)
maternal translocation
mental retardation
multiple congenital anomalies
scoliosis
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Zusammenfassung:We describe a 19‐year‐old woman who has a duplication of 4p. The karyotype is 46,XX, – 14, + der(14),t(4;14) (p15;p12)mat in lymphocytes and skin fibroblasts. The patient has coarse hair, prominent forehead and tip of nose, coloboma, scoliosis, and mental retardation.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320110106