Recombinant Chromosome 8 Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

8 rec syndrome, 8 recombinant syndrome, CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION

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Introduction

Recombinant 8 syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 with characteristics of major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. The prevalence is unknown but the syndrome is rare.

100 Clinical Results associated with Recombinant Chromosome 8 Syndrome

100 Translational Medicine associated with Recombinant Chromosome 8 Syndrome

0 Patents (Medical) associated with Recombinant Chromosome 8 Syndrome

Literatures (Medical) associated with Recombinant Chromosome 8 Syndrome

10 Aug 2023·Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Clinical phenotype and genetic analysis of a fetus with recombinant chromosome 8 syndrome].

Article

Author: Hao, Wanxiao ; Yu, Xiaoming ; Che, Ye'na ; Xu, Jinjin ; Jia, Yifang ; Lyu, Junying ; Zhang, Yingxin ; Xie, Luwen ; Wang, Yanqing

OBJECTIVETo explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome.METHODSA fetus who was diagnosed with Rec8 syndrome at the Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT) (at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis.RESULTSPrenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46,XX,rec(8)(qter→q22.3::p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46,XX,inv(8)(p23.1q22.3), whilst that of her husband was normal.CONCLUSIONThe Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 have differed from previously reported ones.

01 Nov 2020·American Journal of Medical Genetics Part AQ3 · BIOLOGY

Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature

Q3 · BIOLOGY

Review

Author: Dufke, Andreas ; Kehrer, Martin ; Schäferhoff, Karin ; Habhab, Wisam ; Mau‐Holzmann, Ulrike ; Rieß, Angelika ; Kagan, Karl‐Oliver ; Gerbig, Ines ; Singer, Sylke

AbstractRecombinant chromosome 8 (Rec8) syndrome (San Luis Valley [SLV] syndrome; OMIM #179613) is a rare chromosome disorder associated with intellectual disability, congenital heart defects, variable skeletal and urogenital anomalies, and dysmorphic features. It is characterized by a partial terminal deletion of 8p and a partial terminal duplication of 8q, which is usually due to meiotic recombination of a pericentric inversion of chromosome 8 of a healthy carrier parent. There are only few reports of cases with breakpoints defined at the molecular level by molecular karyotyping. We report on a case of Rec8 syndrome with previously unreported breakpoints in a male fetus with intrauterine growth restriction, hypogenesis of the corpus callosum, bilateral cleft lip/palate, and congenital heart defect. Cytogenetic analysis revealed a recombinant chromosome 8 [46,XY,rec(8)(qter→q21.11::p23.3→qter)] secondary to a paternal pericentric inversion [46,XY,inv(8)(p23.3q21.11)]. Molecular karyotyping correspondingly showed a terminal copy number loss of 1.4 Mb (arr[hg19] 8p23.3(158048_1514749)×1) and a terminal copy number gain of chromosome band 8q21.11q24.3 of 69.8 Mb (arr[hg19] 8q21.11q24.3(76477367_146295771)×3). To our knowledge, this is the fourth reported case diagnosed prenatally. We describe the postnatal clinical course of the male newborn. Furthermore, we review and compare the phenotypic features and breakpoints of 74 reported Rec8/SLV cases.

01 May 2019·Clinical Case Reports

Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Author: Cushing, Tom ; Camacho, Jenny E. ; Xie, Hongyan ; Maxwell, Jessie R. ; Clericuzio, Carol ; Oren, Marina S. ; Lowe, Jean

Key Clinical MessageRecombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detailed genetic studies may be required.

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Recombinant Chromosome 8 Syndrome

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