14q terminal deletion: Prenatal diagnosis in a child with severe congenital anomalies

Genetic Counseling

Volumn 11, Issue 4, 2000, Pages 341-346

  Mertens, D J L M ^a   De Die Smulders, C E M ^a   Kampschoer, P H N M ^a   Offermans, J P M ^a   Engelen, J J M ^a   Hamers, A J H ^a   Lammens, M ^a   Schrander Stumpel, C T R M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

14q32q ter deletion; MCA syndrome; Prenatal diagnosis

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME DELETION; CLINICAL FEATURE; FETUS; FINGER MALFORMATION; GENITAL MALFORMATION; HUMAN; HYDRAMNIOS; PRENATAL DIAGNOSIS; ULTRASOUND;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; CYTOGENETIC ANALYSIS; FETAL DEATH; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; PRENATAL DIAGNOSIS;

EID: 0034532886     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Comparative mapping of human alphoid sequences in great apes using fluorescence in situ hybridization
2. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
3. High resolution R- and G-banding on the same preparation
4. Ring chromosome 14. A distinct clinical entity
5. Distal monosomy 14 not associated with ring formation
6. High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones
7. Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q;14q) as a common mechanism
8. Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p
9. Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation
10. Deletion 14q and pericentric inversion 14
11. A complete set of human telomeric probes and their clinical application
12. New sonographic findings in a fetus with an interstitial deletion in the long arm of chromosome 14
13. Delineation of 14q32.3 deletion syndrome
14. An adult patient with a distal interstitial 14q deletion: Clinical report and literature review
15. Terminal deletion (14)(q32.3): A new case
16. A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p
17. A further case of terminal deletion (14)(q32.2) in a child with mild dysmorphic features
18. Molecular analysis redefines three human chromosome 14 deletions
19. A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation