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Table 1 Cytogenetic and/or molecular studies and clinical features reported in patients with de novo duplications of 17p11.2p12 involving PMP22-RAI1 genes (YUHAL syndrome)

From: Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion

Reference Cytogenetic/molecular studies Delineation of the duplication Shared clinical manifestations Electrophysio-logical evaluation Other clinical manifestations
M LW LH H D R/C AE DD
Lupski et al., 1992 [13] Cytogenetic analysis dup(17)(p11.2p12) / FISH and DNA markers confirmed the duplication NA + + + + Generalized demyelinating sensory-motor polyneuropathy Abnormal right hand and thumb.
VSD
Upadhyaya et al., 1993 [11] Cytogenetic analysis dup(17)(p11.2p12) / Southern blot confirmed the duplication NA + + + + + Generalized demyelinating sensory-motor polyneuropathy Ear pits
Roa et al., 1996 [12] Cytogenetic analysis dup(17)p11 / FISH confirmed duplication NA NR NR NR NR NR NR + Generalized demyelinating sensory-motor polyneuropathy  
Cytogenetic analysis 46,XY,inv. dup(17)(pter→ p11.2::p11.2 → p13.3::p11.2 → qter) / FISH confirmed duplication NA NR NR NR NR NR + (1/2) NR + Normal Complex CHD
Fernández-Torre et al., 2001 [14] Cytogenetic analysis 17p(add) / FISH confirmed duplication in 17p13.3 NA + + + + + + Demyelinating neuropathy Divergent strabismus, microphthalmia, hyperactivity
Potocki et al., 2007 [16] Cytogenetic analysis dup(17)(p11.2p12) / FISH confirmed duplication / delimited by aCGH 8.2 Mb NR + + + + Peripheral neuropathy Autistic features, dilated aortic root and bicommissural aortic valve
Doco-Fenzy et al., 2008 [2] Cytogenetic analysis dup(17)(p11.2p12) / FISH confirmed duplication 11.15 Mb + + + + + + Demyelinating neuropathy Everted lower lip, VSD, hyperactivity
Mendez-Rosado et al., 2017 [15] Cytogenetic analysis / reverse FISH
46,XY,der(5)(5pter- > 5p13.1::17p12- > 17p11.2 or 17p11.2- > 17p12::5p13.1- > 5pter
NA + + + + Not done Frontal cortical atrophy, epilepsy
This patient CMA analysis dup(17)(p11.2p12) or arr[hg19] 17p12p11.2(10,701,287-21,504,890)×3 mat.
Concurrent Yq11 deletion previously identified by conventional cytogenetics. A posteriori G-banding and MLPA confirmed the 17p duplication.
10.8 Mb + + + + + + Generalized demyelinating sensory-motor polyneuropathy Everted lower lip, retroauricular pits, hypertrichosis
  1. Abbreviations: aCGH array comparative genomic hybridization, AE Abnormal ears, CHD Congenital heart disease, CMA Chromosomal microarray analysis, D Down-slanted palpebral fissures, DD Developmental delay, FISH Fluorescence in situ hybridization, H Hypertelorism, LH Low height, LW Low weight, M Microcephaly, NA Not available, NR Not reported, R/C Renal/cardiac anomalies, VSD Ventricular septal defect