TY - JOUR
T1 - Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia
T2 - assignment of a human ferritin gene
AU - Youssoufian, Hagop
AU - Chance, Philip
AU - Tuck-Muller, Cathy M.
AU - Jabs, Ethylin Wang
PY - 1988/3
Y1 - 1988/3
N2 - A newborn male with a large diaphragmatic hernia presented in severe respiratory distress. Additional features included a paucity of subcutaneous tissue, mild facial dysmorphism, webbing of the neck, genital hypoplasia, and flexion contractures of the fingers. His karyotype showed a previously unreported de novo interstitial deletion of the long arm of chromosome 1[46,XY,de(1)(pter→q32.3::q42.3→qter)]. Regional mapping of five human genes that have been provisionally assigned to chromosome 1 was performed by restriction analysis of genomic DNA from this patient. Glucocerebrosidase, H4 histone, renin, and alpha-spectrin genes mapped outside the delected region, whereas an H subunit of the ferritin gene mapped to 1q32→q42. These results indicate the utility of chromosomal deletions in gene mapping, and the importance of karyotype analysis in newborns with diaphragmatic hernias.
AB - A newborn male with a large diaphragmatic hernia presented in severe respiratory distress. Additional features included a paucity of subcutaneous tissue, mild facial dysmorphism, webbing of the neck, genital hypoplasia, and flexion contractures of the fingers. His karyotype showed a previously unreported de novo interstitial deletion of the long arm of chromosome 1[46,XY,de(1)(pter→q32.3::q42.3→qter)]. Regional mapping of five human genes that have been provisionally assigned to chromosome 1 was performed by restriction analysis of genomic DNA from this patient. Glucocerebrosidase, H4 histone, renin, and alpha-spectrin genes mapped outside the delected region, whereas an H subunit of the ferritin gene mapped to 1q32→q42. These results indicate the utility of chromosomal deletions in gene mapping, and the importance of karyotype analysis in newborns with diaphragmatic hernias.
UR - http://www.scopus.com/inward/record.url?scp=0023938890&partnerID=8YFLogxK
U2 - 10.1007/BF00291674
DO - 10.1007/BF00291674
M3 - Article
C2 - 3162227
AN - SCOPUS:0023938890
SN - 0340-6717
VL - 78
SP - 267
EP - 270
JO - Human Genetics
JF - Human Genetics
IS - 3
ER -