First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes

B. Dallapiccola; G. Ferranti; D. Altissimi; F. Colloridi; R. Paesano

First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes

B. Dallapiccola, G. Ferranti, D. Altissimi, F. Colloridi, R. Paesano

Ospedale Pediatrico Bambino Gesu

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

Abstract

A (14;21) homozygous Robertsonian translocation was detected by first-trimester prenatal diagnosis. The related parents were heterozygous for the same translocation. At birth the baby was physically normal and had a normal psychomotor development. Together with a few previous observations in living homozygotes for (13;14) translocations, this case corroborates the idea that these subjects with 44 chromosomes are healthy without dysmorphic features.

Original language	English
Pages (from-to)	555-558
Number of pages	4
Journal	Prenatal Diagnosis
Volume	9
Issue number	8
Publication status	Published - 1989

ASJC Scopus subject areas

Genetics(clinical)
Obstetrics and Gynaecology

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title = "First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes",

abstract = "A (14;21) homozygous Robertsonian translocation was detected by first-trimester prenatal diagnosis. The related parents were heterozygous for the same translocation. At birth the baby was physically normal and had a normal psychomotor development. Together with a few previous observations in living homozygotes for (13;14) translocations, this case corroborates the idea that these subjects with 44 chromosomes are healthy without dysmorphic features.",

author = "B. Dallapiccola and G. Ferranti and D. Altissimi and F. Colloridi and R. Paesano",

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AU - Dallapiccola, B.

AU - Ferranti, G.

AU - Altissimi, D.

AU - Colloridi, F.

AU - Paesano, R.

PY - 1989

Y1 - 1989

N2 - A (14;21) homozygous Robertsonian translocation was detected by first-trimester prenatal diagnosis. The related parents were heterozygous for the same translocation. At birth the baby was physically normal and had a normal psychomotor development. Together with a few previous observations in living homozygotes for (13;14) translocations, this case corroborates the idea that these subjects with 44 chromosomes are healthy without dysmorphic features.

AB - A (14;21) homozygous Robertsonian translocation was detected by first-trimester prenatal diagnosis. The related parents were heterozygous for the same translocation. At birth the baby was physically normal and had a normal psychomotor development. Together with a few previous observations in living homozygotes for (13;14) translocations, this case corroborates the idea that these subjects with 44 chromosomes are healthy without dysmorphic features.

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First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes

Abstract

ASJC Scopus subject areas

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