Prenatal diagnosis of 13q-syndrome in a fetus with holoprosencephaly and thumb agenesis

Ultrasound in Obstetrics and Gynecology

Volumn 17, Issue 2, 2001, Pages 166-168

  Gutierrez, J ^a   Sepulveda, W ^b   Saez, R ^a   Carstens, E ^a   Sanchez, J ^a  

^a San Jose Hospital   (Chile)

^b CLÍNICA LAS CONDES   (Chile)

Author keywords

13q syndrome; Chromosome 13; Holoprosencephaly; Prenatal diagnosis; Prenatal ultrasound; Thumb agenesis

Indexed keywords

ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHROMOSOME 13Q; CLINODACTYLY; CLUBFOOT; FACE MALFORMATION; FEMALE; FETUS; FETUS BLOOD; FETUS MALFORMATION; HOLOPROSENCEPHALY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDRAMNIOS; KARYOTYPING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THUMB MALFORMATION;

EID: 0035079704     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.2001.00335.x     Document Type: Article

References (8)

1. Chromosome deletion in a case of retinoblastoma
2. Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
3. The 13q-syndrome: The molecular definition of a critical deletion region in the band 13q32
4. Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocoele in a fetus
5. Ultrasonographic prenatal diagnosis of the 13q-syndrome
6. Fetal holoprosencephaly: Associated malformations and chromosomal defects
7. Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34