Trisomy D-trisomy E mosaicism in an infant male.

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Trisomy D-trisomy E mosaicism in an infant male.

The patient, a male, was the third child of a 41-year' 4 old mother and 45-year-old father. The pregnancy was terminated after a 39-week gestation by a Caesarean section for elective sterilization. Apart from the development of polyhydramnios (estimated 5 1), the pregnancy was uneventful. There was no history of viral infection, drug ingestion, or radiation Al? exposure. The mother had previous...

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Double autosomal trisomy (trisomy D+G) with mosaicism.

The patient, a male, the seventh child of a 37-year-old father and a 34-year-old Caucasian mother, was the product of a pregnancy complicated by massive polyhydramnios. The mother previously had had two miscarriages. During the present pregnancy she had not had any infections or X-irradiation. There was no family history of congenital malformations, mental retardation, leukaemia, autoimmune dis...

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Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.

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Trisomy 22 mosaicism.

A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.

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Trisomy 15 mosaicism in an IVF fetus.

Prenatal diagnosis of an IVF pregnancy in a woman aged 41 years showed a fetus mosaic for trisomy 15. The fetus had dysmorphic features, hypoplastic adrenal glands, and an accessory spleen. Both IVF and advanced maternal age would seem to increase the risk of trisomy 15.

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1971

ISSN: 1468-6244

DOI: 10.1136/jmg.8.3.384