Recently added articles from Genetic Counseling:
A SEVERELY MENTALLY AND MOTOR RETARDED GIRL WITH MONOSOMY 3pter[arrow right]p25 AND TRISOMY 8q24[arrow right]qter DUE TO A FAMILIAL RECIPROCAL TRANSLOCATION t(3;8)(p25;q24)
Apr 01, 2009; ... Summary: A severely mentally and motor retarded girl with monosomy 3pter[arrow right]p25 and trisomy 8q24[arrow right]qter due to a familial reciprocal translocation t(3;8) (p25;q24): We report a familial translocation t(3;8) in a three generation family that includes a severely retarded ...
A NOVEL LOSS-OF-FUNCTION MUTATION IN THE GNS GENE CAUSES SANFILIPPO SYNDROME TYPE D
Apr 01, 2009; ... Summary: A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D: Mucopolysaccharidosis type IIID (MIM 252940) is the least common form of the four subtypes of Sanfilippo syndrome. It is an autosomal recessive lysosomal disorder caused by a deficiency of the ...
TURNER SYNDROME AND 45,X/47,XXX MOSAICISM
Apr 01, 2009; ... Summary: Turner syndrome and 45,X/47,XXX mosaicism: The occurrence of double aneuploidy is a relatively rare phenomenon. We report on a 17-year-old woman with short stature, minimal pubic and axillar hair and short hands. In cultured lymphocyte a double aneuploidy mosaicism was detected, ...
A TURKISH NEWBORN INFANT WITH CEREBELLAR AGENESIS/NEONATAL DIABETES MELLITUS AND PTF1A MUTATION
Apr 01, 2009; ... Summary: A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation: Classical neonatal diabetes mellitus is defined as hyperglycemia that occurs within the first month of life in term infants. It can be either permanent or transient. Cerebellar agenesis and ...
CHROMOSOME INSTABILITY IN A PATIENT WITH RECURRENT ABORTIONS
Apr 01, 2009; ... Summary: Chromosome instability in a patient with recurrent abortions: Chromosomal aberrations are one of the recognized possible etiologic genetic causes of recurrent spontaneous abortions. Increased chromosome instability without constitutional chromosome abnormalities is uncommon in these ...