A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome

Clinical Genetics

Volumn 58, Issue 6, 2000, Pages 483-487

  De Vries, Bba ^a,b   Bitner Glindzicz, M ^a   Knight, Sjl ^c   Tyson, J ^a   MacDermot, Kd ^d   Flint, J ^c   Malcolm, S ^a   Winter, Robin M ^a,e  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d ROYAL FREE HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONSTIPATION; DISEASE SEVERITY; FACE DYSMORPHIA; FACIES; FAMILY HISTORY; FOLLOW UP; HUMAN; JOINT LAXITY; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MUSCLE HYPOTONIA; PRIORITY JOURNAL; SYNDROME FG; TELOMERE; X CHROMOSOME RECESSIVE DISORDER;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CYTOGENETIC ANALYSIS; HUMANS; MALE; SYNDROME;

EID: 0034532865     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.580610.x     Document Type: Article

References (25)

1. Fragile X Syndrome
2. FG syndrome
3. FG syndrome: The triad mental retardation, hypotonia, and constipation reviewed
4. A gene for FG syndrome maps in the Xq12-q21.31 region
5. Mutation and FG syndrome-like phenotype
6. A microdeletion syndrome due to a 3-Mb deletion on 19q13.2 - Diamond-Blackfan anaemia associated with macrocephaly, hypotonia, and psychomotor retardation
7. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
8. Subtle chromosomal rearrangements in children with unexplained mental retardation
9. Human Genetic Diseases
10. A complete set of human telomeric probes and their clinical application
11. Developmental and clinical application of an innovative fluorescence in situ hybridisation technique which, detects submicroscopic rearrangements involving telomeres
12. STS for minisatellite MS607 (D22S163)
13. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome
14. Partial monosomy for chromosome 22 in a patient with del(22)(pter-q13.1::q13.33-qter)
15. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)
16. Two patients with 22q13.3 deletions have similar facies and developmental patterns
17. Terminal 22q deletion associated with a partial deficiency of arylsulphatase A
18. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion
19. Clinical, cytogenetic, and molecular characterisation of 7 patients with deletions of chromosome 22q13.3
20. Partial monosomy for chromosome 22 in a girl with mental retardation
21. Genetic evaluation of pervasive developmental disorders: The terminal 22q13 deletion syndrome may represent a recognisable phenotype
22. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients
23. Two 22q telomere deletions serendipitously detected by FISH
24. Cryptic subtelomeric translocations in the 22q13 deletion syndrome