Korean J Obstet Gynecol.  2001 Oct;44(10):1931-1936.

A Case of Terminal Deletion of Chromosome 13q

• Lee JR
• Kim BJ
• Kim DH
• Jee BC
• Park JS
• Jun JK
• Yoon BH
• Moon SY
• Syn HC

Abstract

The 13q deletion syndrome was described firstly by Allderdice et al. in 1969. Common findings include fetal growth restriction, microcephaly, other central nervous system malformations, eye abnormalities, characteristic facial appearance, congenital heart defects, gastrointestinal anomalies, vertebral, limb, and perineal defects, and varying degrees of mental retardation. We report a case of terminal deletion of chromosome 13q. Conventional cytogenetic result from amniocytes was 46,XY,del(13)(q32). The prenatal ultrasonographic findings were fetal growth restriction, oligohydramnios, microcephaly, ventriculomegaly and clubfoot. Gross anomalies after delivery included microcephaly, low set ears, absent thumbs, club foot, partial syndactyly of 4th and 5th toes, ambiguous genitalia, and imperforate anus. In addition to characteristic features of 13q terminal deletion, cleft lip and palate was found in our case. Cytogenetic abnormality probably results from phenotypically normal mother, whose karyotype was 46,XX,inv(3)(p26q13.1),t(13;20)(q32;p13) from lymphocytes.

Keyword

Chromosome 13; Terminal deletion

MeSH Terms

Anus, Imperforate
Central Nervous System
Chromosome Aberrations
Chromosomes, Human, Pair 13
Cleft Lip
Clubfoot
Cytogenetics
Disorders of Sex Development
Ear
Extremities
Eye Abnormalities
Female
Fetal Development
Foot
Heart Defects, Congenital
Humans
Intellectual Disability
Karyotype
Lymphocytes
Microcephaly
Mothers
Oligohydramnios
Palate
Pregnancy
Syndactyly
Thumb
Toes