06p243

6p24.3

Publication Details

  • Davies A F, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J.: Delineation of two distinct 6p deletion syndromes. Hum. Genet. 104:64-72, 1999. [PubMed: 10071194]
    Law C J, Fisher A M, Temple I K.: Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports. J. Med. Genet. 35:685-689, 1998. [PMC free article: PMC1051400] [PubMed: 9719381]
    46,XY,del(6)(p24.3)de novo.ish del(6)(p25p25)(36I2-).
    Patient was 32 years old. 6p deletion syndrome characteristics include facial appearance with hypertelorism, downward slanting palpebral fissures, tented mouth, ear anomalies, anterior chamber eye defects, deafness, among other anomalies.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-
    Index Terms: Anterior chamber eye anomaly

  • Martinet D, filges I, Schmutz N B, Morris M A, Gaide A-C, Dahoun S, Bottani A, Addor M-C, Antonarakis S E, Beckmann J S, Bena F. : Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. AJMG Part A: 146A: 2094-2102, 2008. [PubMed: 18629875]
    Patient 1=46,XX,del(60(p24.3->pter),8.1 Mb, dup(6)(p24.3p24),5.8 Mb.,Patient 2=46,XY,del(60(p25.1->pter),5.7 Mb.
    Patient 1 was 8 months old with normal growth parameters, bilateral corectopia, protruding tongue, severe devlopmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia.,Patient 2 was 5 years old with normal growth parameters with unilateral hip dysplasia, bilateral embryotoxon, and moderate MR.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-

  • Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]
    46,XY,del(6)(p24.3).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6p-
    Index Terms: High resolution G-banding
    Positive band