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Table 1 Summary of fourteen cases showing marker chromosomes

From: Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization

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-) Fig. 3a, 3b
4 male prenatal 47,XY,+mar 15 ~20 maternal NA Centromeric FISH, M-FISH ish idic(15)(wcp15+, D15Z1++, D15S11-) mat Fig. 3c, 3d
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
  1. Chr chromosomal, CGH comparative genomic hybridization, M-FISH whole chromosome painting multicolor- fluorescence in situ hybridization, NA not available, NE not established