An adult patient with a distal interstitial 14q deletion: Clinical report and literature review

Genetic Counseling

Volumn 11, Issue 4, 2000, Pages 335-340

  Spruijt, L ^a   Van Der Blij Philipsen, M ^a   Engelen, J J M ^a   Schrander Stumpel, C T R M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Interstitial 14q deletion; Mental retardation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL FEATURE; FRAGILE X SYNDROME; HUMAN; MALE; MENTAL DEFICIENCY; PHENOTYPE; RING CHROMOSOME;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; CYTOGENETIC ANALYSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION; PHENOTYPE;

EID: 0034532547     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Deletion 14(q22q23) associated with anophthalmia, absent pituitary, and other abnormalities
2. De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly
3. Molecular analysis of three patients with interstitial deletions of chromosome band 14q31
4. Prenatal diagnosis of the de novo proximal interstitial deletion of 14q associated with cebocephaly
5. A case of deletion 14(q22.1-q22.3) associated with anophthalmia and pituitary abnormalities
6. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
7. Ring chromosome 14. A distinct clinical entity
8. A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome
9. Another patient with a deletion 14q11.2q13
10. First case of deletion 14q11.2q13: Clinical phenotype
11. Distal monosomy 14 not associated with ring formation
12. Deletion (14)(q24.3q32.1): Evidence for a distinct clinical phenotype
13. A case of partial monosomy of 14q
14. Holoprosencephaly associated with 46,XX,del (14) (q11.1q13)
15. Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q;14q) as a common mechanism
16. 14q terminal deletion: Prenatal diagnosis with severe congenital anomalies
17. Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p
18. Deletion 14q and pericentric inversion 14
19. A complete set of human telomeric probes and their clinical application
20. Interstitial deletion of 14q, 46, XY, del (14) (q24.3q32.1) associated with status nonepileptic myoclonia and delayed myelination
21. Delineation of 14q32.3 deletion syndrome
22. Opposite imbalances of distal 14q in two unrelated patients
23. De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations
24. Terminal deletion (14)(q32.3): A new case
25. Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin)
26. A case of a female infant with simultaneous occurence of de novo terminal deletions on chromosome 14q and 20p
27. A further case of terminal deletion (14)(q32.2) in a child with mild dysmorfic features
28. Molecular analysis redefines three human chromosome 14 deletions
29. Deletion 14(q24.3 to q32.1) syndrome: Significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha-1-antitrypsin)
30. A terminal deletion (14) (q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation