Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.

Autor: Hsu LY; Prenatal Diagnosis Laboratory of New York City/Medical and Health Research Association of N.Y., Inc., NY, USA., Yu MT, Neu RL, Van Dyke DL, Benn PA, Bradshaw CL, Shaffer LG, Higgins RR, Khodr GS, Morton CC, Wang H, Brothman AR, Chadwick D, Disteche CM, Jenkins LS, Kalousek DK, Pantzar TJ, Wyatt P

Publikováno v: Prenatal diagnosis [Prenat Diagn] 1997 Mar; Vol. 17 (3), pp. 201-42.

Growth parameters in maternal uniparental disomy 7 and 14.

Autor: Kotzot, Dieter¹ DieterKotzot@gmx.de

Publikováno v: European Journal of Pediatrics. Nov2007, Vol. 166 Issue 11, p1143-1149. 7p. 3 Charts, 1 Graph.

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.

Autor: Ioannides, Yiannis, Lokulo-Sodipe, Kemi, Mackay, Deborah J. G., Davies, Justin H., Karen Temple, I.

Publikováno v: Journal of Medical Genetics; Aug2014, Vol. 51 Issue 8, p495-501, 7p

Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.

Autor: Cajaiba, Mariana M., Witchel, Selma, Madan-Khetarpal, Suneeta, Hoover, Jaqueline, Hoffner, Lori, Macpherson, Trevor, Surti, Urvashi

Publikováno v: American Journal of Medical Genetics. Part A; Aug2011, Vol. 155A Issue 8, p1996-2002, 7p

Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism.

Autor: Robinson, Wendy P., McFadden, Deborah E., Barrett, Irene J., Kuchinka, Brian, Peñaherrera, Maria S., Bruyère, Hélène, Best, Robert G., Pedreira, Denise A. L., Langlois, Sylvie, Kalousek, Dagmar K.

Publikováno v: Prenatal Diagnosis; Dec2002, Vol. 22 Issue 12, p1076-1085, 10p