TY - JOUR
T1 - A female patient with partial duplication 22 (q13→qter)
AU - Wieczorek, Dagmar
AU - Holtvogt, Jürgen
AU - Thonig, Sabine
AU - Gillessen-Kaesbach, Gabriele
PY - 1998
Y1 - 1998
N2 - We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.
AB - We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.
UR - http://www.scopus.com/inward/record.url?scp=0031796157&partnerID=8YFLogxK
U2 - 10.1097/00019605-199810000-00010
DO - 10.1097/00019605-199810000-00010
M3 - Journal articles
C2 - 9823497
AN - SCOPUS:0031796157
SN - 0962-8827
VL - 7
SP - 289
EP - 294
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
IS - 4
ER -
