TY - JOUR
T1 - A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency
AU - Pallotta, Rosanna
AU - Dalprà, Leda
AU - Miozzo, Monica
AU - Ehresmann, Tamara
AU - Fusilli, Paola
PY - 2001/12/15
Y1 - 2001/12/15
N2 - 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 lq syndrome, and we hypothesize the existence of only one lq interstitial deletion syndrome, clinically characterized by ATIII deficiency.
AB - 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 lq syndrome, and we hypothesize the existence of only one lq interstitial deletion syndrome, clinically characterized by ATIII deficiency.
KW - Antithrombin III
KW - Broad thumb/toe
KW - Chromosomal abnormality
KW - Coagulation factor V
KW - Coagulation factor XIII
KW - Interstitial del(1q) syndrome
KW - Psychomotor delay
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U2 - 10.1002/ajmg.10068
DO - 10.1002/ajmg.10068
M3 - Article
C2 - 11754060
AN - SCOPUS:0035892811
SN - 1552-4825
VL - 104
SP - 282
EP - 286
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 4
ER -