A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities [6]

Journal of Medical Genetics

Volumn 38, Issue 2, 2001, Pages 125-126

  Sumption, N D ^a   Barber, J C K ^a  

^a Brighton Business Centre   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

INHIBIN; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

CHROMOSOME 22Q; CHROMOSOME 2Q; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL FEATURE; CYTOGENETICS; DNA REPLICATION; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INSERTIONAL CHROMOSOME TRANSLOCATION; KARYOTYPE; KIDNEY MALFORMATION; LETTER; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

ABNORMALITIES; ADULT; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; PHENOTYPE;

EID: 0035109376     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (18)

1. De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46,XY,del(2)(q 12q 14)
2. Proximal 2q monosomy in a case with mild phenotype
3. Délétion interstitielle, de novo, du bras long d'un chromosome 2: 46,XX,del(2)(q14q21), associée à un craniosynosteose prématurée
4. Interstitial deletion 2q14q21
5. Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level
6. Deletion of band 13q21 is compatible with normal phenotype
7. Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype
8. Heritable deletion of band 16q21 with normal phenotype: Relationship to late replicating DNA
9. Interstitial deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review
10. Familial microdeletion of chromosome 2 without phenotypic effect
11. Deletion of 9p in three generations without apparent phenotypic effect
12. Del(3)(p25.3) without phenotypic effect
13. A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: A review of deletion 8p23.1 cases
14. Identification of the gene-richest bands in human prometaphase chromosomes
15. Chromosome imbalance, normal phenotype and imprinting