Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.
Eur J Med Genet
; 56(7): 383-8, 2013 Jul.
Article
en En
| MEDLINE
| ID: mdl-23608969
ABSTRACT
De novo combined duplications/inversions are very rare chromosomal rearrangements. For chromosome 7 just some dozen cases of duplications of various parts of the long arm have been published. We report on a 12-year-old boy with muscular hypotonia, global developmental delay, short stature, and various facial dysmorphism including frontal bossing, temporal narrowing, slightly down-slanting palpebral fissures, a broad nasal root, a long philtrum, a thin and tented upper lip, a drooping lower lip, micrognathia, prominent ears, a short neck, and a low posterior hairline. Karyotype analysis and molecular investigations revealed a complex de novo chromosomal rearrangement on 7q. FISH analysis with locus specific YACs and BACs and SNP array with the Illumina(®) HumanOmni1-Quad v1.0 BeadChip disclosed a direct duplication in the long arm of chromosome 7 (q22.1âq32.2) and an inversion located at the breakpoint between the two copies of the duplication (q31.31âq31.33). In addition, breakpoint characterization at the molecular level revealed a 386 bp insertion carrying two Alu elements of chromosome 19p13.2 between the two copies of the duplication. By a comparison of the SNP haplotypes of the derivative chromosome of the patient and both parents a two-step formation during spermatogenesis was suggested as the most likely mechanism of formation.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 7
/
Cromosomas Humanos Par 19
/
Discapacidades del Desarrollo
/
Aberraciones Cromosómicas
Tipo de estudio:
Diagnostic_studies
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2013
Tipo del documento:
Article