Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome.
Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a distinct entity, is a similar condition associated with a microdeletion overlapping the WHS critical region. In this paper we evaluate three WHS patients showing a microdeletion of 4p and remarkable development with respect to the clinical spectrum of WHS.
Dufke
A
A
Division of Medical Genetics, University of Tübingen, Tübingen, Germany. andreas.dufke@uni-tuebingen.de
Seidel
J
J
Schöning
M
M
Döbler-Neumann
M
M
Kelbova
C
C
Liehr
T
T
Beensen
V
V
Backsch
C
C
Klein-Vogler
U
U
Enders
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D000649:Amniocentesis; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004200:Diseases in Twins / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008423:Maternal Age; D011110:Polymorphism, Genetic; D018566:Pregnancy, High-Risk; D013577:Syndrome; D016216:Ultrasonography, Prenatal