Paediatria Croatica, Vol. 60 No. 3, 2016.
Recenzija, Prikaz slučaja
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
Sažetak
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.
Ključne riječi
caudal regression sequence; sacral agenesis; 7q deletion; HLXB9; Currarino syndrome; 7q34-q36.3 region; SHH; CMA
Hrčak ID:
173787
URI
Datum izdavanja:
24.9.2016.
Posjeta: 2.108 *