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 |