Case No. | Gender | Age at testing | Karyotype | Chr. Origin | Size | Inheritance | Phenotype | Molecular cytogenetic method | Molecular cytogenetic method results | Fig |
---|---|---|---|---|---|---|---|---|---|---|
1 | female | 19 y | mos 45,X[25]/46,X,+mar[5] | X | <20 | NE | Short stature, Primary amenorrhea | Centromeric FISH | nuc ish(DXZ1x1)[340/400]/nuc ish(DXZ1x2)[60/400] | Fig. 1 |
2 | female | 1 m | 47,XX,+der(12;18)(p10;p10) | der(12;18)(p10;p10) | <20 | paternal | Incomplete cleft palate, | M-FISH | ish der(12;18)(wcp12+,wcp18+) pat | Fig. 2 |
Developmental coordination disorder, | ||||||||||
Developmental delay | ||||||||||
3 | female | 25 m | mos 47,XX,+mar[24]/46,XX[6] | 15 | ~20 | NE | Developmental delay, Failure to thrive | Centromeric FISH | ish idic(15)(D15Z1++, D15S11-) | |
4 | male | prenatal | 47,XY,+mar | 15 | ~20 | maternal | NA | Centromeric FISH, M-FISH | ish idic(15)(wcp15+, D15Z1++, D15S11-) mat | |
5 | female | 32 m | 47,XX,+mar | 15 | ~20 | maternal | Developmental delay | Centromeric FISH, Array CGH | ish der(15)(D15Z1+).arr[hg19]15q11.1q13.1(20,102,541-28,525,460)x3 mat | Fig. 3e |
6 | male | prenatal | mos 47,XY,+mar[14]/46,XY[26] | 14 | <20 | NE | NA | Centromeric FISH, M-FISH | ish der(14)(D14Z1+,wcp14+) | Fig. 4a |
7 | NA | NA | NA | 22 | <20 | NE | NA | Centromeric FISH, M-FISH | ish idic(22)(D22Z1++, wcp22+) | Fig. 4b |
8 | female | 11 y | mos 47,XX,+mar[45]/46,XX[5] | 14 or 22 | <20 | maternal | Short stature | Centromeric FISH, M-FISH | ish der(14/22)(D14Z1/D22Z1+) mat | Fig. 4c |
9 | female | prenatal | mos 46,XX,min[4]/46,XX[11] | 6 | <20 | de novo | NA | Centromeric FISH, M-FISH | ish der(6)(wcp6+) de novo | NA |
10 | female | 8 y | mos 47,XX,+mar[5]/46,XY[45] | 16 | <20 | NE | Short stature, | M-FISH | ish der(16)(wcp16+) | Fig. 7a |
Elevated TSH level | ||||||||||
11 | male | 18 m | mos 47,XY,+mar[14]/46,XY[26] | 19 | <20 | de novo | Developmental delay | M-FISH | ish der(19)(wcp19+) de novo | Fig. 7b |
12 | female | 10 y | 47,XX,+mar | 2 | <20 | maternal | Short stature, Developmental delay | Array CGH | arr[hg19]2q11.1q12.3(95,529,039-108,083,956)x3 mat,18p11.32p11.31(142,096-5,853,122)x1 dn | Fig. 5a |
13 | male | 2 m | mos 47,XY,+mar[8]/46,XY[42] | 2 | <20 | de novo | Prematurity, Developmental delay, ASD | Array CGH, FISH | arr[hg19]2q11.1q12.1(95,529,039-105,358,887)x3 dn,7q11.23(72,726,578-74,139,390)x3 mat | Fig. 5c, |
Fig. 6 | ||||||||||
14 | male | 20 m | mos 48,XY,+2mar[16]/47,XY,+mar[9]/46,XY[5] | NE | <20 | de novo | Developmental delay | NE | NE | NE |