A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome

Balarin, Marly Aparecida Spadotto; Lopes, Vera Lúcia Gil da Silva; Varella‐Garcia, Marileila

doi:10.1002/(sici)1096-8628(19990115)82:2<183::aid-ajmg16>3.0.co;2-h

Cited by 17 publications

(22 citation statements)

References 22 publications

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“…Before this report only eight of these patients had kidney abnormalities as presented in Table III [Balarin et al, 1999; Potocki et al, 1999, 2007; Schneider et al, 2000; Girirajan et al, 2007; Zhang et al, 2010]. The size of the duplications in these patients ranged from 0.49 to 8.7 Mb (Fig.…”

Section: Discussionmentioning

confidence: 97%

Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

Goh

Perez

Canales

et al. 2012

American J of Med Genetics Pt A

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Potocki-Lupski syndrome is a genomic disorder caused by duplication of 17p11.2. It is characterized by failure to thrive, intellectual disability, hypotonia, and behavioral difficulties. Structural renal anomalies have been observed in <10% of affected individuals. We present detailed clinical and molecular data on six patients with Potocki-Lupski syndrome, two of whom had renal abnormalities, and investigate the prevalence of kidney abnormalities in the mouse model for the syndrome. In contrast to affected humans, the mouse model does not demonstrate a renal phenotype. Comparison of the duplicated segment in patients with Potocki-Lupski syndrome and the renal phenotype and the syntenic duplicated region in the mouse model allowed us to suggest a 0.285 Mb critical region, including the FLCN gene that may be important for development of renal abnormalities in patients with this duplication.

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Section: Discussionmentioning

confidence: 97%

Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

Goh

Perez

Canales

et al. 2012

American J of Med Genetics Pt A

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“…Partial trisomy of the short arm of chromosome 17 involving the sub-band 17p11.2 due to duplication of the SMS critical region shows mild developmental delay, neurobehavioral abnormalities and minor craniofacial anomalies (Brown et al 1996;Balarin et al 1999;Potocki et al 2000;Schneider et al 2000). Patients with larger proximal 17p duplication including the PMP22 gene within 17p12 are aVected with CMT1A (Chance et al 1992;Lupski et al 1992;Upadhyaya et al 1993;Roa et al 1996;King et al 1998;Lupski and Garcia 2001).…”

Section: Discussionmentioning

confidence: 99%

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

Jarmuż

Sparagana

et al. 2006

Hum Genet

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We report clinical findings and molecular cytogenetic analyses for two patients with translocations [t(14;17)(p12;p12) and t(15;17)(p12;p13.2)], in which the chromosome 17 breakpoints map at a large low-copy repeat (LCR) and a breakage-prone TRE-2 (USP6) oncogene, respectively. In family 1, a 6-year-old girl and her 5-year-old brother were diagnosed with mental retardation, short stature, dysmorphic features, and Charcot-Marie-Tooth disease type 1A (CMT1A). G-banding chromosome analysis showed a der(14)t(14;17)(p12;p12) in both siblings, inherited from their father, a carrier of the balanced translocation. Chromosome microarray and FISH analyses revealed that the PMP22 gene was duplicated. The chromosome 17 breakpoint was mapped within an approximately 383 kb LCR17pA that is known to also be the site of several breakpoints of different chromosome aberrations including the evolutionary translocation t(4;19) in Gorilla gorilla. In family two, a patient with developmental delay, subtle dysmorphic features, ventricular enlargement with decreased periventricular white matter, mild findings of bilateral perisylvian polymicrogyria and a very small anterior commissure, a cryptic duplication including the Miller-Dieker syndrome region was identified by chromosome microarray analysis. The chromosome 17 breakpoint was mapped by FISH at the TRE-2 oncogene. Both partner chromosome breakpoints were mapped on the short arm acrocentric heterochromatin within or distal to the rRNA cluster, distal to the region commonly rearranged in Robertsonian translocations. We propose that TRE-2 together with LCR17pA, located approximately 10 Mb apart, also generated the evolutionary gorilla translocation t(4;19). Our results support previous observations that the USP6 oncogene, LCRs, and repetitive DNA sequences play a significant role in the origin of constitutional chromosome aberrations and primate genome evolution.

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“…Individuals with duplications of the SMS critical region in 17p11.2 are affected with mental retardation, psychomotor and speech delays, neurobehavioral abnormalities, feeding difficulties, seizures and failure to thrive (Balarin et al 1999;Brown et al 1996;Docherty et al 1983;Kozma et al 1991;Lupski et al 1992;Magenis et al 1986;Potocki et al 1999;Schneider et al 2000). Patients with duplications including the PMP22 gene in 17p12 are also affected with CMT1A peripheral neuropathy (Lupski et al 1992;Potocki et al 2000;Roa et al 1996;Shaw et al 2004b).…”

Section: Discussionmentioning

confidence: 99%

“…Individuals with trisomy of 17p11.2 due to duplication of the Smith-Magenis syndrome (SMS) critical region manifest mild developmental delay, neurobehavioral abnormalities, and minor craniofacial anomalies (Balarin et al 1999;Brown et al 1996;Potocki et al 2000;Schneider et al 2000). Patients with larger 17p duplications including the peripheral myelin protein 22 gene (PMP22) within 17p12 are affected with CharcotMarie-Tooth disease type 1A (CMT1A) in addition to a more complex multiple congenital anomalies/mental retardation syndrome (Chance et al 1992;King et al 1998;Lupski et al 1992;Roa et al 1996;Shaw et al 2004b;Upadhyaya et al 1993).…”

Section: Introductionmentioning

confidence: 99%

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p

et al. 2004

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We report a nine-year-old girl (patient 1934) and a five-year-old boy (patient 2170) with small, de novo supernumerary marker chromosomes (SMCs) derived from proximal 17p. The clinical features of patient 1934 include developmental delay, triangular face, prominent forehead, low set ears, dental abnormalities, a high arched palate, long, flexible fingers, and joint laxity. Patient 2170 is affected with developmental delay, oral-motor dyspraxia/verbal apraxia, thick upper and lower lips, bilateral fifth finger clinodactyly, joint laxity and mild hypotonia. G-banded chromosome analysis of patient 1934 revealed mosaicism for a SMC in 72% of peripheral lymphocytes analyzed, whereas analysis of patient 2170 identified a smaller SMC present in 100% of cells analyzed. Fluorescence in situ hybridization (FISH) studies demonstrated that both of the SMCs derived from 17p10-p11.2. Using FISH and array-CGH analysis, the proximal breakpoints mapped within the centromere and the distal breakpoints were both located within the Smith-Magenis syndrome (SMS) common deletion region. We compare the clinical characteristics of our patients with those previously reported to have either SMC including 17p or duplications of proximal 17p in an effort to further delineate the phenotype of trisomy 17p10-p11.2 and to elucidate genotype-phenotype correlations.

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A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome

Cited by 17 publications

References 22 publications

Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p

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