The Principles of Clinical Cytogenetics - Extra Materials - Springer

258
Table 6
Constitutional Cytogenetic Studies of Infertile Men; Includes Men with Azoospermia and Oligospermia
Other Y chrom Rob Recip
47,XXY 47,XXY/ sex chrom struct 46,XX trans trans Inv + Mar Other
N (%) 46,XY(%) abn (%) abn (%) (%) (%) (%) (%) (%) (%)
2,247 139 a (6.2) 6 (0.26) 15 (0.67) 3 (0.13) 25 (1.1) 5 (0.22) 1 (0.04) 2 (0.09)
153 9 (5.8) 3 (2.0) 2 (1.3) 3 (2.0) 1 (0.65) 2 (1.3) 2 (1.3)
342 2 (0.58) 2 (0.58) 2 (0.58) 2 (0.58) 1 (0.29) 1 (0.29)
2,372 24 (1.0) 7 (0.30) 2 (0.08) 4 (0.17) 10 (0.42) 4 (0.16)
281 57 (20.3) 1 (0.36) 6 (2.1) 1 (0.36) 2 (0.71) 3 (1.1) 5 (1.8)
57 9 (15.8) 1 (1.8) 1 (1.8) 3 (5.2) 1 (1.8) 2 (3.5)
1,000 21 (2.1) ?* ?* 2 (0.2)
2,542 147 (5.8) NA 7 (0.26) 18 (0.7) 3 (0.10) 26 (1.0) 6 (0.24) 1 (0.04) 3 b (0.12) 4 c (1.5)
1,363 57 (4.2) NA 1 (0.07) 11 (0.81) 3 (0.22) 4 b (0.29) 20 d (1.5)
Total 465 (4.5) 6 (0.06) 31 (0.30) 40 (0.39) 10 (0.10) 75 (0.72) 35 (0.34) 4 (0.04) 15 (0.15) 24 (0.23)
10,357
Newborns 39/ — — e — 51/ 55/ 7/ 13/ —
36,855 59,514 59,514 59,514 59,514
(0.11) (0.09) (0.09) (0.01) (0.02)
Abbreviations: N = number of men studied in that series; other sex chrom abn = other sex chromosome abnormalities; Y chrom struct abn = Y chromosome structural
abnormalities; Rob trans = Robertsonian translocation; Recip trans = reciprocal translocation; Inv = inversion; Mar = marker chromosome.
Note: NA = not applicable; mosaics included in 47,XXY column in these surveys.
a Includes 47,XXY and 47,XXY/46,XY.
b Described as an “extra G.”
c 14p–; 15p–; fragile site at 16q22; “ring E.”
d Includes several heteromorphisms and other variants not generally reported in other series.
e Frequency of XYY in newborn series was 33 in 36,855, or 0.09%.
*Includes six cases described as XYY, deletions and rings.
Source: Data from refs. 25 and 26.
258 Linda Marie Randolph