Partial trisomy 6q: case report with necropsy findings.

Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.

We describe a stillborn female infant with severe intrauterine growth retardation and multiple congenital anomalies. She was found to have a deletion of 13q22----qter and trisomy of 18p11.2----pter, resulting from a maternal balanced translocation.

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

We report on a familial three way translocation involving chromosomes 3, 6, and 15 identified by prometaphase banding and fluorescence in situ hybridisation (FISH). Two mentally retarded sibs with different phenotypic abnormalities, their phenotypically normal sister and mother, and two fetuses of the phenotypically normal sister were analysed. The terminal regions of chromosomes 3q, 6q, and 15...

Sonographic Findings in Partial Type of Trisomy 18

Report of a Case with Trisomy 9 Mosaicism

Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...

Rectovaginal fistula and atresia ani in a kitten: a case report

Rectovaginal fistula with atresia ani is a congenital condition that affects the anal opening and rectum by the formation of an abnormal connection between the rectum and vagina. This was diagnosed in a domestic short hair kitten. The presenting physical abnormalities included depression, dehydration, partial tail agenesis, anal atresia and a discharge of watery feces from the vaginal opening. ...