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Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.

Yokoyama-Rebollar E, Ruiz-Herrera A, Lieberman-Hernández E, Del Castillo-Ruiz V, Sánchez-Sandoval S, Ávila-Flores SM, Castrillo JL - Mol Cytogenet (2015)

Bottom Line: These translocations can arise de novo or result from the segregation of chromosomes involved in a familial balanced translocation.A 5-year-old Mexican girl presented with developmental delay, minor dysmorphic features and history of exotropia.This report demonstrates the usefulness of array CGH for a detailed characterization of familial translocations, including the detection of submicroscopic copy number variations, which would otherwise be missed by karyotype analysis alone.

View Article: PubMed Central - PubMed

Affiliation: Departamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C. Colonia Insurgentes Cuicuilco. Delegación Coyoacán C.P. 04530. México, D.F., México.

ABSTRACT

Background: The 15q11q13 region is subject to imprinting and is involved in various structural rearrangements. Less than 1% of Angelman Syndrome patients are due to translocations involving 15q11q13. These translocations can arise de novo or result from the segregation of chromosomes involved in a familial balanced translocation.

Results: A 5-year-old Mexican girl presented with developmental delay, minor dysmorphic features and history of exotropia. G-banding chromosome analysis established the diagnosis of Angelman Syndrome resulting from a familial translocation t(10;15) involving the 15q11.2 region. The available family members were studied using banding and molecular cytogenetic techniques, including Microarray-based Comparative Genomic Hybridization, which revealed additional unexpected results: a coincidental and smaller 15q deletion, asymptomatic duplications in 15q11.2 and Xp22.31 regions.

Conclusions: This report demonstrates the usefulness of array CGH for a detailed characterization of familial translocations, including the detection of submicroscopic copy number variations, which would otherwise be missed by karyotype analysis alone. Our report also expands two molecularly characterized rare patient cohorts: Angelman Syndrome patients due to familial translocations and patients with 15q11.2 duplications of paternal origin.

No MeSH data available.


Related in: MedlinePlus

Available family members. A) Pedigree of the proband and her family; B) Proband (III-1) with telecanthus, bilateral epicanthal folds, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs.
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Fig1: Available family members. A) Pedigree of the proband and her family; B) Proband (III-1) with telecanthus, bilateral epicanthal folds, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs.

Mentions: A 5-year-old Mexican girl, first child of a healthy nonconsanguineous couple was evaluated (Figure 1A). She was born at full term via caesarean section, which was indicated because of oligohydramnios detected in the last prenatal ultrasound; otherwise the pregnancy was uneventful. Her birth weight was 2800 g, length was 48 cm; Apgar score of 9.Figure 1


Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.

Yokoyama-Rebollar E, Ruiz-Herrera A, Lieberman-Hernández E, Del Castillo-Ruiz V, Sánchez-Sandoval S, Ávila-Flores SM, Castrillo JL - Mol Cytogenet (2015)

Available family members. A) Pedigree of the proband and her family; B) Proband (III-1) with telecanthus, bilateral epicanthal folds, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4404657&req=5

Fig1: Available family members. A) Pedigree of the proband and her family; B) Proband (III-1) with telecanthus, bilateral epicanthal folds, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs.
Mentions: A 5-year-old Mexican girl, first child of a healthy nonconsanguineous couple was evaluated (Figure 1A). She was born at full term via caesarean section, which was indicated because of oligohydramnios detected in the last prenatal ultrasound; otherwise the pregnancy was uneventful. Her birth weight was 2800 g, length was 48 cm; Apgar score of 9.Figure 1

Bottom Line: These translocations can arise de novo or result from the segregation of chromosomes involved in a familial balanced translocation.A 5-year-old Mexican girl presented with developmental delay, minor dysmorphic features and history of exotropia.This report demonstrates the usefulness of array CGH for a detailed characterization of familial translocations, including the detection of submicroscopic copy number variations, which would otherwise be missed by karyotype analysis alone.

View Article: PubMed Central - PubMed

Affiliation: Departamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C. Colonia Insurgentes Cuicuilco. Delegación Coyoacán C.P. 04530. México, D.F., México.

ABSTRACT

Background: The 15q11q13 region is subject to imprinting and is involved in various structural rearrangements. Less than 1% of Angelman Syndrome patients are due to translocations involving 15q11q13. These translocations can arise de novo or result from the segregation of chromosomes involved in a familial balanced translocation.

Results: A 5-year-old Mexican girl presented with developmental delay, minor dysmorphic features and history of exotropia. G-banding chromosome analysis established the diagnosis of Angelman Syndrome resulting from a familial translocation t(10;15) involving the 15q11.2 region. The available family members were studied using banding and molecular cytogenetic techniques, including Microarray-based Comparative Genomic Hybridization, which revealed additional unexpected results: a coincidental and smaller 15q deletion, asymptomatic duplications in 15q11.2 and Xp22.31 regions.

Conclusions: This report demonstrates the usefulness of array CGH for a detailed characterization of familial translocations, including the detection of submicroscopic copy number variations, which would otherwise be missed by karyotype analysis alone. Our report also expands two molecularly characterized rare patient cohorts: Angelman Syndrome patients due to familial translocations and patients with 15q11.2 duplications of paternal origin.

No MeSH data available.


Related in: MedlinePlus