A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency

Rosanna Pallotta, Leda Dalprà, Monica Miozzo, Tamara Ehresmann, Paola Fusilli

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)282-286
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume104
Issue number4
DOIs
Publication statusPublished - Dec 15 2001

Keywords

  • Antithrombin III
  • Broad thumb/toe
  • Chromosomal abnormality
  • Coagulation factor V
  • Coagulation factor XIII
  • Interstitial del(1q) syndrome
  • Psychomotor delay

ASJC Scopus subject areas

  • Genetics(clinical)

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