Korean J Perinatol.  1999 Mar;10(1):56-60.

A Case of Multicystic Renal Dysplasia with Chromosomal Abnormality

Abstract

Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of holoprosencephaly, diagnosed prenatally by ultrasound examination at 31 weeks of pregnancy in a 31-year-old primigravida woman. This case is characterized by holoprosencephaly, cleft palate, cleft lip, left renal aplasia and right renal hypertrophy. The chromosomal study showed a deletion of the long arm of chromosome 7, 46, XX, del(7)(q32), We report with a terminal deletion of chromosome 7q associated with atypical clinical picture and holoprosencephaly.

Keyword

Holoprosencephaly; Deletion of chromosome 7q; Cleft palate; Cleft lip

MeSH Terms

Adult
Arm
Chromosome Aberrations*
Chromosomes, Human, Pair 7
Cleft Lip
Cleft Palate
Female
Holoprosencephaly
Humans
Hypertrophy
Multicystic Dysplastic Kidney*
Pregnancy
Prosencephalon
Ultrasonography
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