Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review
β Scribed by Surasak Puvabanditsin; Eugene Garrow; Erik Brandsma; Jayshree Savla; Bgee Kunjumon; Inder Gadi
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 119 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We report the prenatal diagnosis of partial trisomy 3p(3p23<pter) and monosomy 7q(7q36<qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine
The prenatal and postnatal findings of a fetus with partial deletion of 3p25+pter and duplication of 2p25.3-ipter are described. The proband postnatally displayed mental and growth retardation, psychomotor delay, microcephaly, ptosis, micrognathia, a narrow palate, and cryptorchidism. All of these a
Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Diffe