04q222

4q22.2

Publication Details

  • Tanemura M, Suzumori K, Nishikawa N, Ishihara Y.: Multicolor spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies. Prenat. Diag. 21:1123-1128, 2001. [PubMed: 11787036]
    Family 1 was ascertained because of a previous abnormal child.
    Mother=46,XX,der(4)t(4;16)(q22.2;q22.3),der(13)ins(13;4),(q31.2;q22.2q31.3 or q31.3q22.2),der(16)t(4;16)(q31.3;q22.3).,Prenatal diagnosis and a normal boy=46,XY,der(4),t(4;16)(q22.2;q22.3),der(13)ins(13;4)(q31.2;q22.2q31.3 or q31.3q22.2),der(16)t(4;16)(q31.3;q22.3)mat.
    Aberration: CT,IX
    Index Terms: SKY

  • Tosca L, Brisset S, Pettit F M, Lecerf L, Rousseau G, Bas C, Laroudie M, Maurin M-L, Tapia S, Piconi O, Prevot S, Goossens M, Labrune P, Tachdjian G. : Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism. Europ. J. Hum. Genet. 18: 882-888, 2010. [PMC free article: PMC2987392] [PubMed: 20424646]
    Cases 1 and 2: 46,X(X) or (Y),add(4)dn.cgh dup (q22.2-q32.3)dn
    The first pregnancy was terminated. The second pregnancy resulted in a boy with MCA/MR and the boy was 32 months old.
    Aberration: Duplication
    Chromosomal Aneuploidy: 4q+
    Index Terms: Ovarian germinal mosaicism