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Table 2 Cytogenetic and/or molecular studies and clinical features reported in patients with Yq deletions

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

Reference Karyotype G, C or Q- banding Molecular /cytogenomic studies Extension of the deletion Shared clinical manifestations Other clinical manifestations
M HP H LH Hy FD NMD A DD
Nakagome et al., 1965 [22] + NR + + + + NA +  
Meisner et al., 1972 [19] + NR + Cryptorchidism NR + Tall stature
Neu et al., 1973 [23] + NR + +  
Telfer et al., 1973 [24] + NR + + NA +  
Yunis et al., 1977 [8] + NR + + +  
Podruch et al., 1982 [25] + 46,X,del(Y)(q11) + + + Micropenis NA +  
Kosztolániy et al., 1983 [26] + 46,X,del(Y)(q11) + + + Gynecomastia
Langmaid et al., 1974 [27] + NR + + NA  
Skare et al., 1990 [21] + SB 46,X,del(Y)(q11) + + + + Micropenis +  
Calzolari et al., 1993 [7] + FISH, SB, STS markers 46,X,del (Y)(q11.21qter) + + Cryptorchidism NA CoAo
Lahn et al., 1994 [20] + FISH, STS markers NR, heterogeneous breakpoints along Yq + + + Cryptorchidism + +  
Salo et al., 1995 [18] (9 patients) + STS markers NR, all patients including Yq11 region 5/9 5/9 8/9 Cryptorchidism 1/9, micropenis 2/9, ASD 1/9 + 9/9 CoAo (n = 1)
Rousseaux-Prévost et al., 1996 [28] + STS markers 46,X, del(Y)(q11.21) + +  
De Rosa et al., 1997 [29] + SB, STS markers 46,X,del(Y)(q11.1pter) + + + +  
Kim et al., 2012 [6] + FISH, STS markers 46, X,del (Y)(q11.23) NR NR NR NR NR NR + NR  
This patient + STS markers, CMA: arr [hg19] Yq11.21q11.23(14,064,952-28,766,705)×0 pat 46,X,del(Y)(q11) + + + + Micropenis NA + Everted lower lips, Retroauricular pits
  1. Abbreviations: A Azoospermia, ASD Alteration in sexual differentiation, CMA Chromosomal microarray analysis, CoAo Coarctation of aorta, DD Developmental delay, FD Facial dysmorphism, FISH Fluorescence in situ hybridization, H Hypertrichosis, Hy Hypotonia, HP High palate, LH Low height, M Microcephaly, NA Not available, NMD Normal male development, NR Not reported, SB: Southern blot analysis, STS Sequence-tagged site