A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p.
This is a case report on an infant with de novo terminal deletions on the long arm of chromosome 14 and on the short arm of chromosome 20 [46, XX, del(14)(q32)del(20)(p11)]. Examination revealed that the infant had a peculiar face, a cleft and high palate, abnormal dentition, butterfly-like vertebral defects, finger anomalies, a simian line on the left hand, talipes equinovarus, deep plantar furrows, abnormally high values of alkali phosphatase and lactate dehydrogenase, mild anemia and psychomotor retardation. Comparing the present case with previously reported cases of a single deletion on chromosome 14q or chromosome 20p, the infant showed some symptomatic and dysmorphic features of both deletions.
Uehara
S
S
Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Miyagi, Japan.
Akai
Y
Y
Takeyama
Y
Y
Okamura
K
K
Takabayashi
T
T
Yajima
A
A
Natsui
M
M
Nakai
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D002890:Chromosomes, Human, Pair 20; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics