On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome

G. Martini; G. Carillo; F. Catizone; A. Notarangelo; R. Mingarelli; B. Dallapiccola

On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome

G. Martini, G. Carillo, F. Catizone, A. Notarangelo, R. Mingarelli, B. Dallapiccola

Research output: Contribution to journal › Article › peer-review

Abstract

A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.

Original language	English
Pages (from-to)	763-766
Number of pages	4
Journal	Prenatal Diagnosis
Volume	13
Issue number	8
Publication status	Published - 1993

Keywords

49,XXXXX
Molecular analysis
Non-disjunction
Ovary atrophy
Pentasomy X
Prenatal diagnosis

ASJC Scopus subject areas

Genetics(clinical)
Obstetrics and Gynaecology

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title = "On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome",

abstract = "A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.",

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T1 - On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome

AU - Martini, G.

AU - Carillo, G.

AU - Catizone, F.

AU - Notarangelo, A.

AU - Mingarelli, R.

AU - Dallapiccola, B.

PY - 1993

Y1 - 1993

N2 - A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.

AB - A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.

KW - 49,XXXXX

KW - Molecular analysis

KW - Non-disjunction

KW - Ovary atrophy

KW - Pentasomy X

KW - Prenatal diagnosis

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