Prenatal diagnosis of de novo mosaic deletion 13q associated with multiple abnormalities

Ultrasound in Obstetrics and Gynecology

Volumn 19, Issue 4, 2002, Pages 396-399

  Widschwendter, A ^a   Riha, K ^a   Duba, H C ^a   Kreczy, A ^a   Marth, C ^a   Schwarzler P ^a  

^a UNIVERSITY HOSPITAL INNSBRUCK   (Austria)

Author keywords

13q deletion; Meningoencephalocele; Mosaic; Prenatal diagnosis; Sonography

Indexed keywords

AGENESIS; AMNIOCENTESIS; ARTICLE; AUTOPSY; CASE REPORT; CEREBELLUM DISEASE; CHROMOSOME DELETION 13; CONTROLLED STUDY; CORDOCENTESIS; CORPUS CALLOSUM; DISEASE ASSOCIATION; ENCEPHALOMENINGOCELE; FETUS; FETUS DISEASE; FETUS ECHOGRAPHY; FETUS KARYOTYPING; FOREHEAD; GENETIC ANALYSIS; GESTATIONAL AGE; HUMAN; HYDRONEPHROSIS; KARYOTYPE 46,XY; MACROGLOSSIA; MALE; MICROCEPHALY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYNDACTYLY; THUMB MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; HUMANS; HYDRONEPHROSIS; KARYOTYPING; MOSAICISM; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 0036268612     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.2002.00563.x     Document Type: Article

References (22)

1. Preliminary definition of a 'critical region' of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
2. Partial deletion of the long arm of chromosome, 13
3. Interstitial deletion of chromosome 13 and associated congenital anomalies
4. The 13q-syndrome: The molecular definition of a critical deletion region in band 13q32
5. Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r (13) (p11q14)/46,XX,der (13) t (13; 13) (q10;q14)
6. Spina bifidum and cranium bifidum. I. A survey of five hundred and forty-six cases
7. First-trimester diagnosis of exencephaly
8. 13q - In a fetus with ultrasonographic diagnosis of exencephaly in the first trimester
9. Syndromes with cephaloceles
10. Prenatal ultrasound detection of isolated neural tube defects: Is cytogenetic evaluation warranted?
11. Fetal cephaloceles: Diagnosis with US
12. Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32 leads to 13qter
13. Lethal polymalformative syndrome with 13q deletion secondary to a maternal X; 13 translocation
14. Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocoele in a fetus
15. Frequency of 13q abnormalities among 203 patients with retinoblastoma
16. Hereditary retinoblastoma and 13q - Mosaicism
17. Bilateral retinoblastoma associated with 13q-mosaicism. Possible manifestation of a germinal mutation
18. 13q-/r(13) mosaicism
19. The prognosis of encephaloceles
20. The prognosis of occipital encephalocele
21. The child with an encephalocele
22. An assessment of the treatment of encephalomeningoceles