Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
 free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
 free
 free
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage McLeod DR; Wesselman LR; Hoar DIJ Med Genet 1991[Aug]; 28 (8): 541-3We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.|*Chromosomes, Human, Pair 12[MESH]|*Mosaicism[MESH]|Abnormalities, Multiple/*genetics[MESH]|Anus, Imperforate/genetics[MESH]|Cleft Palate/*genetics[MESH]|Female[MESH]|Hernia, Diaphragmatic/genetics[MESH]|Humans[MESH]|Infant, Newborn[MESH]|Karyotyping[MESH]|Phenotype[MESH]|Sacrum/abnormalities[MESH]|Syndrome[MESH] |
