Prenatal diagnosis of de novo interstitial 16q deletion in a fetus associated with sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones.
De novo interstitial 16q deletion diagnosed in utero has not previously been reported. We present a case of fetal de novo interstitial 16q deletion associated with the sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones. Genetic amniocentesis at 23 weeks' gestation revealed a de novo deletion of 16q13-q22. At birth, the fetus manifested a dysmorphic phenotype correlated with monosomy 16q syndrome. Linkage analysis of the family confirmed the maternal origin and the extent of the deletion. We suggest that prenatal detection of a prominent frontal bone with prominent cranial sutures and shortening of the long bones should prompt cytogenetic analysis looking for a deletion in the long arm of chromosome 16.
Chen
C P
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
Chern
S R
SR
Lee
C C
CC
Chen
L F
LF
Chuang
C Y
CY
D000328:Adult; D000649:Amniocentesis; D001842:Bone and Bones / Q000002:abnormalities*; D002885:Chromosomes, Human, Pair 16; D003393:Cranial Sutures / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities / Q000000981:diagnostic imaging; D017353:Gene Deletion; D008040:Genetic Linkage; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal