Small terminal deletions of the long arm of chromosome 2: Two new cases

Journal Article · Thu Dec 01 00:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320530412· OSTI ID:61997

Fisher, A M; Ellis, K H; Browne, C E; Barber, J C.K. ^[1]; Barker, M ^[2]; Kennedy, C R ^[3]; Foley, H ^[4]; Patton, M A ^[5]

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1. Salisbury District Hospital, Wiltshire (United Kingdom)
2. West Dorset General Hospitals NHS Trust, Dorchester (United Kingdom)
3. Southampton General Hospital (United Kingdom)
4. Royal Surrey County Hospital, Guilford (United Kingdom)
5. St. George`s Hospital Medical School, London (United Kingdom)

We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases. The phenotype associated with small terminal 2q deletions is variable and clearly not always as mild as indicated in previous reports. The abnormality may also be more common than has been assumed. 12 refs., 3 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 61997
• Journal Information: American Journal of Medical Genetics, Vol. 53, Issue 4; Other Information: PBD: 1 Dec 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 2
GENETIC MAPPING
CHROMOSOMAL ABERRATIONS
HEREDITARY DISEASES
GENETICS
PATIENTS
MENTAL DISORDERS
GENES
PHENOTYPE