Chonnam Med J.  2001 Dec;37(4):415-419.

A Case of Trisomy 13q and Monosomy 17p Due to an Adjacent-2 Segregation of Maternal Reciprocal Translocation

• Lee JH
• Kim KH
• Kim DL
• Kim MH
• Choi YY
• Juhng SW
• Choi C

Abstract

We report a boy with a trisomy of chromosome 13q and monosomy of chromosome 17p due to an adjacent segregation-2 of maternal reciprocal translocation. At age of one month and a week, the proband showed developmental delay with truncal hypotonia. Facial anomalies were characterized by upslanted palpebral fissures, round face, hypotelorism, microphthalmia, small narrow forehead, short nose with upturned tip, prominent nasal bridge, long philtrum, micrognathia, retrognathia, low-set ears, natal teeth, tongue tie, high-arched palate, and capillary hemangioma. Both testes were undescended, and bilateral inguinal hernias were found. Skeletal anomalies included bilateral clenched fists with unusual position of the fingers, clinodactyly and arachinodactyly, bilateral hexadactyly (ulnar side), simian crease on the left palm, and rocker-bottom feet. Cranial ultrasonogram showed partial agenesis of corpus callosum and hypoplastic cerebellum. The karyotype of the proband was 46,XY, +13,der (13;17)(q10; q10)mat, and that of the mother was 46,XX,t (13;17) (q10;q10). The proband died at two and a half month of age. The maternal origin of the extra chromosome was deduced from DNA polymorphisms and karyotype analyses.

Keyword

Adjacent-2 segregation; Trisomy 13q; Monosomy 17p; Translocation trisomy

MeSH Terms

Agenesis of Corpus Callosum
Cerebellum
DNA
Ear
Fingers
Foot
Forehead
Hemangioma, Capillary
Hernia, Inguinal
Humans
Karyotype
Lip
Male
Microphthalmos
Monosomy*
Mothers
Muscle Hypotonia
Natal Teeth
Nose
Palate
Retrognathia
Testis
Tongue
Trisomy*
Ultrasonography
DNA