A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.
A patient with microbrachycephaly, high forehead, long philtrum, thin upper lip, downturned corners of the mouth, low set ears with overlapping helix, fifth-finger clinodactyly, small hands and feet, bilateral transverse palmar crease, low total finger ridge count, hypotonia, severe growth and psychomotor delay, mild hypoplasia of corpus callosum, and Arnold-Chiari type 1 malformation is reported. The karyotype showed 46, XY, del(1)(q23q31.2). Coagulation factor V (F5, 1q23) and coagulation factor XIII (F13B, 1q31-q32.1) levels were normal. As expected, antithrombin III (AT3, 1q23-q25.1) serum level and activity were half of normal. We performed a review of the literature on proximal and intermediate deletion 1q syndrome, and we hypothesize the existence of only one 1q interstitial deletion syndrome, clinically characterized by ATIII deficiency.
Pallotta
R
R
Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, G. D'Annunzio University, Chieti, Italy. pallotta@unich.it
Dalprà
L
L
Miozzo
M
M
Ehresmann
T
T
Fusilli
P
P
D000293:Adolescent; D000990:Antithrombin III / Q000235:genetics / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005500:Follow-Up Studies; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D013577:Syndrome
D000990:Antithrombin III