Chromosomal microarrays testing in children with developmental disabilities
          and congenital anomalies

Lay-Son, Guillermo; Espinoza, Karena; Vial, Cecilia; Rivera, Juan C.; Guzmán, María L.; Repetto, Gabriela M.

doi:10.1016/j.jped.2014.07.003

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Original Articles • J. Pediatr. (Rio J.) 91 (2) • Mar-Apr 2015 • https://doi.org/10.1016/j.jped.2014.07.003 linkcopy

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies ^☆

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstracts

OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort.

METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm) HD Array, Affymetrix, Inc., Santa Clara, CA, USA). Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly.

RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs) were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients.

CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting.

Microarrays; Congenital anomalies; Developmental disabilities; Copy number variants; Diagnosis


Patient ID	Developmental Delay	Intellectual Disability	Generalized hypotonia	Seizures	Central nervous system malformation	Microcephaly	Facial dysmorphism	Congenital eye anomaly	Visual anomaly	External ear anomaly	Hearing defect	Cleft lip +/-palate	Cleft palate/Robin sequence	Congenital heart disease	Hemivertebrae/Scoliosis	Gastrointestinal malformation	Abdominal hernia	Kidney malformation	Genital/Urinary tract defect	Limb anomaly	Generalized ligamentous hyperlaxity	Skeletal anomaly	Short stature	Failure to thrive	Obesity	Congenital Skin Defect	Cytogenetic studies	CMA results	Clinical interpretation
1		N/A																									46,XX	arr(1-22,X)x2	No genomic imbalances
2		N/A																									46,XX	arr(1-22,X)x2	No genomic imbalances
3		N/A																									46,XX	arr(1-22,X)x2	No genomic imbalances
4		N/A																									46,XY	arr(1-22)x2,(XY)x1	No genomic imbalances
5																											46,XY	arr(1 -22)x2,(XY)x1	No genomic imbalances
6		N/A																									46,XY	arr 9p23(9,323,653 -	Variant of unknown
6		N/A																									46,XY	11,359,708)x3	significance (VUOS)
																												11,359,708)x3	significance (VUOS)
7		N/A																									46,XY	arr(1-22)x2,(XY)x1	No genomic imbalances
8																											46,XX; FISH 22q (-)	arr 6p25.1-p23(6,389,847-	6p25.1p23 deletion
8																											46,XX; FISH 22q (-)	15,124,349)x1	6p25.1p23 deletion
																												15,124,349)x1
9		N/A																									46,XX	arr(1-22,X)x2	No genomic imbalances
10																											46,XY,der(16)	arr(1-22)x2,(XY)x1	Pericentric inversion 16
11		N/A																									46,XY	arr(1-22)x2,(XY)x1	No genomic imbalances
12		N/A																									46,XY	arr(1-22)x2,(XY)x1	No genomic imbalances
13																											46,XX; FISH 22q (-)	arr(1-22,X)x2	No genomic imbalances
14																											46,XX	arr(1-22,X)x2	No genomic imbalances
15																											46,XY; FISH 22q (- )	arr(1-22)x2,(XY)x1	No genomic imbalances
16		N/A																									46,XY	arr(1-22)x2,(XY)x1	No genomic imbalances
17																											46,XY	arr(1-22)x2,(XY)x1	No genomic imbalances
18																											46,XX	arr(1-22,X)x2	No genomic imbalances
																												arr
19																											47,XX,+mar/46,XX	20p12.3q11.22(7,180,552-	Partial trisomy 20 mosaicism
																												32,402,789)x2~3
20		N/A																									46,XY	arr	2q23.2q24.3 deletion
20		N/A																									46,XY	2q23.2q24.2(150,216,033-	2q23.2q24.3 deletion
																												2q23.2q24.2(150,216,033-
																												161,228,203)x1
21																											46,XY; FISH 22q (- )	arr(1 -22)x2,(XY)x1	No genomic imbalances
22																											46,XY; FISH 22q (- )	arr 15q25.2(83,083,418-	15q25.2 deletion
22																											46,XY; FISH 22q (- )	84,834,123)x1	15q25.2 deletion
																												84,834,123)x1
23																											46,XY; FISH 22q (- )	arr(1-22)x2,(XY)x1	No genomic imbalances
24		N/A																									46,XY	arr(1-22)x2,(XY)x1	No genomic imbalances
24		N/A																									46,XY	arr(1-22)x2,(XY)x1	No genomic imbalances
25																											46,XX; FISH 17p (-)	arr(1-22,X)x2	No genomic imbalances
26																											46,XX	arr(1-22,X)x2	No genomic imbalances
27		N/A																									46,XY	arr(1-22)x2,(XY)x1	No genomic imbalances
																											46,XY; FISH 22q (- );
28		N/A																									Chromosome	arr(1-22)x2,(XY)x1	No genomic imbalances
																											breakage analysis (-)
29																											46,XX	arr(1-22,X)x2	No genomic imbalances
30																											45,XY,der	arr(1 -22)x2,(XY)x1	Robertsonian translocation,
30																											(14;15)(q10;q10)	arr(1 -22)x2,(XY)x1	no genomic imbalances
																											(14;15)(q10;q10)		no genomic imbalances
																												arr
31																											46,XX	22q12.1q12.3(28,966,333-	22q12.1q12.3 deletion
																												34,541,402)x1
																													SMC bisatellited (NOR
32		N/A																									47,XX,+mar (mat);	arr(1-22,X)x2	staining), heterochromatin
32		N/A																									FISH15q (-)	arr(1-22,X)x2	maternally derived (healthy
																											FISH15q (-)		maternally derived (healthy
																													mother)
33		N/A																									46,XX; FISH 22q (-)	arr(1-22,X)x2	No genomic imbalances
																											46,XY; FISH 7q ( - ),	arr 6p25.3 -p25.2(156,974-
34																											22q( - ) subtelomeres	arr 6p25.3 -p25.2(156,974-	6p25.3p25.2 deletion
34																											22q( - ) subtelomeres	2,400,023)x1	6p25.3p25.2 deletion
																											(- )	2,400,023)x1
																											(- )
																												arr 6p25.3p25.2(294,910-	12p13.33 deletion;
35		N/A																									46,XY	3,403,875)x3,12p13.33(173,	12p13.33 deletion;
35		N/A																									46,XY	3,403,875)x3,12p13.33(173,	6p25.3p25.2 triplication
																												786 -3,283,049)x1	6p25.3p25.2 triplication
																												786 -3,283,049)x1
																												arr
																												14q32.12q32.33(94,174,317-	22q13 deletion;
36																											46,XY	107,285,437)x3,22q13.31q13	22q13 deletion;
36																											46,XY	107,285,437)x3,22q13.31q13	14q32.12q32.33 triplication
																												.33(47,852,611-	14q32.12q32.33 triplication
																												.33(47,852,611-
																												51,197,838)x1
																												arr 4q34.1-
																												arr 4q34.1-
37		N/A																									46,XX; FISH 22q (-)	q35.2(174,409,811-	4q34.1q35.2 deletion
																												190,957,473)x1
38		N/A																									45,X	arr Xp22.33q28(168,546-	Monosomy X, without other
38		N/A																									45,X	155,233,731)x1	imbalances
																												155,233,731)x1	imbalances
39																											46,XY	arr(1 -22)x2,(XY)x1	No genomic imbalances
40																											46,XY	arr 19p13.3(3,788,725-	19p13.3 deletion
40																											46,XY	5,346,511)x1	19p13.3 deletion
																												5,346,511)x1

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Sociedade Brasileira de Pediatria Av. Carlos Gomes, 328 cj. 304, CEP: 90480-000 , Tel.: (+55 51) 3108-3328 - Porto Alegre - RS - Brazil
E-mail: jped2@sbp.com.br

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[TFN01] CMA, chromosomal microarray; FISH, fluorescent in situ hybridization; N/A, not applicable by age; NOR, nucleolar organizer region; sSMC, supernumerary small marker chromosome.

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies ☆

Abstracts

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies ^☆