TY - JOUR
T1 - Malformation syndrome associated with small extra chromosome
AU - Carmi, R.
AU - Abeliovich, D.
AU - Bar-Ziv, J.
AU - Karplus, M.
AU - Cohen, M. M.
PY - 1980/1/1
Y1 - 1980/1/1
N2 - The authors report an infant with a previously apparent unreported lethal malformation syndrome concentrated primarily on the left half of the body, but including midline defects such as meningomyelocele, cleft lip and cleft palate, and imperforate anus. The infant also had a small extra metacentric chromosome in 60% of lymphocytes. It is postulated that the small extra chromosome (whose origin remains unknown) caused the infant's condition, and that its asymmetry is compatible with an uneven distribution of the normal and aneuploid cell lines in the two halves of the body during critical phases of prenatal development.
AB - The authors report an infant with a previously apparent unreported lethal malformation syndrome concentrated primarily on the left half of the body, but including midline defects such as meningomyelocele, cleft lip and cleft palate, and imperforate anus. The infant also had a small extra metacentric chromosome in 60% of lymphocytes. It is postulated that the small extra chromosome (whose origin remains unknown) caused the infant's condition, and that its asymmetry is compatible with an uneven distribution of the normal and aneuploid cell lines in the two halves of the body during critical phases of prenatal development.
UR - http://www.scopus.com/inward/record.url?scp=0018935215&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320050113
DO - 10.1002/ajmg.1320050113
M3 - Article
C2 - 7395896
AN - SCOPUS:0018935215
SN - 1552-4825
VL - 5
SP - 101
EP - 107
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -