Case report

https://doi.org/10.13112/PC.2016.17

Caudal regression sequence and deletion of 7q34-q36.3 region

Adriana Bobinec orcid.org/0000-0001-9634-0920 ; Klinika za dječje bolesti Zagreb
Ana-Maria Ivankov orcid.org/0000-0001-5925-0934
Marina Čule orcid.org/0000-0001-8503-4143
Ivona Sansović orcid.org/0000-0002-9325-0847
Ingeborg Barišić orcid.org/0000-0002-9085-6747

Abstract

Caudal regression sequence is a rare congenital disorder that involves a spectrum of congenital anomalies ranging from agenesis of
the lumbosacral spine to the most severe cases of sirenomelia with lower extremity fusion. This disorder is often accompanied by
damage to the spinal cord and various malformations of musculoskeletal, gastrointestinal, genitourinary and nervous systems.
Most cases are sporadic or associated with gestational diabetes. It is believed that caudal regression sequence occurs during embryogenesis
as a result of disturbance in mesoderm development. To date, pathogenic variants of HLXB9 gene in the 7q36.3 region
were associated exclusively with the autosomal dominant form of sacral agenesis or Currarino syndrome. We report the fi rst case of
caudal regression sequence caused by deletion of 7q34-q36.3 region, inherited from mother with balanced reciprocal translocation:
46,XX,t(7;18)(q35;q23), and highlight the important role of HLXB9 gene in development of sacrum and associated structures.

Keywords

caudal regression sequence; sacral agenesis; 7q deletion; HLXB9; Currarino syndrome; 7q34-q36.3 region; SHH; CMA

Hrčak ID:

173787

URI

https://hrcak.srce.hr/173787

Publication date:

24.9.2016.

Article data in other languages: croatian

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