Ann Lab Med.  2017 Jan;37(1):88-91. 10.3343/alm.2017.37.1.88.

De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl

• Sánchez-Casillas AL
• Rivera H
• Castro-Martínez AG
• García-Ortiz JE
• Córdova-Fletes C
• Mendoza-Pérez P

• KMID: 2373623
• DOI: http://doi.org/10.3343/alm.2017.37.1.88

Abstract

No abstract available.

MeSH Terms

Child, Preschool
Chromosome Disorders/diagnosis/*genetics
*Chromosomes, Human, Pair 8/genetics
Female
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability
Karyotyping
Mexico
Oligonucleotide Array Sequence Analysis

Figure

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  Fig. 1 The patient's der(8) de novo chromosome. (A) One G-banded chromosome 8 pair with the der(8) on the right. (B) FISH revealed that the rearranged chromosome had two 8q red subtelomere signals but lacked 8p green subtelomeric repeats. (C) Loss and gain profile analysis indicated by log2 ratio (red/blue plotting) and single nucleotide polymorphism (SNP) panel (green plotting/shading) showing the alleles distribution and zygosity profile after visualization with the Agilent CytoGenomics software v.2.9.1.3; green shading represents the loss of heterozygosity in the deleted segment. (D) Differential aberration analysis from the trio denoting a de novo origin of all three imbalances; (E) Informative alleles (arrowed) showing the maternal origin of the recombinant-like chromosome. Note: the origin of the concomitant 8p gain was also maternal (data not shown). Abbreviations: P, patient; M, mother; F, father.

• 

  Fig. 2 Scheme denoting Familial true rec(8) and de novo rec(8)-like cases without 8p gain characterized by microarray analysis (above the ideogram) as compared with the de novo rec(8)-like cases with a concomitant 8p gain (below the ideogram) similarly assessed. The size in megabases (Mb) is placed outside some imbalances only because of space restraints. *This patient had an extra mosaic r(8)(p11.21q11); †Case presented by Sani et al, at the IX Congresso Nazionale, Societa Italiana di Genetica Umana 2006; ‡Case presented by Cohen et al, at the Meeting of The American Society of Human Genetics 2007; §Case presented by Hannachi et al, at the 4th Congress of the European Academy of Paediatric Societies 2012, abstract in Arch Dis Child 2012;97(Suppl 2): A213; ∥Case presented by Tos et al, at the Meeting of The European Society of Human Genetics 2015; ¶Case presented by Gruchy et al, at the 5-eme Assisses de Genetique Humaine et Medicale 2010, abstract in Med/Sci 2010;(hors serie)26:223-4.

Reference

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