Translocations |
1a | M-4 | consanguineous marriage; stereotypic hand movements, PSMR; short eye contact duration; pathology in brain MRI; ASD | 46,XY,t(4;10)(q34.2;q26.2) | 10q26.3 (130669231-135534747)x3 | 4.8 Mb | gain | de novo |
2a | M-13 | minimal nonspecific ID; hypo-glycemia; cryptorchidism; facial dysmorphism; short neck; hypo-myelinization and subarachnoid enlargement in cranial CT | 46,XY,t(4;10)(q25;q22.1) | normal | – | – | – |
3a | M-6 | PSMR; anal stenosis; bilateral inguinal hernia; facial dysmorphism; macrocephaly; short fingers and clinodactyly on the fifth finger | 46,XY,t(5;17)(q12.2;q21.33) | normal | – | – | – |
4a | M-4 | PSMR; drug therapy due to convulsion; facial dysmorphism; pes planus | 46,XY,t(2;10)(q33.2;p12.32) | normal | – | – | – |
5a | F-7 | PSMR; hypotonia; central obesity; childhood polyphagia | 46,XX,t(6;9)(q25.1;q32) | normal | – | – | – |
6b | M-11 | consanguineous marriage; ID; hyperactivity; poor eye contact, repetitive speech; family history of MR (paternal side); fragile X test normal | 46,XY,t(9;10)(p22;q24)pat | normal | – | | – |
7b | M-13 | consanguineous marriage; mild ID; brother and maternal aunt’s daughter affected; microphthalmia; severe PSMR; muscle atrophy; microcephaly; bilateral hydronephrosis; facial dysmorphism | 46,XY,t(6;19)(p11;p13.2)mat | normal | – | – | – |
8b | F-9 | consanguineous marriage; microcephaly; facial dysmorphism; clinodactyly; cranial CT consistent with Lissencephaly type 1 | 46,XX,t(3;4)(p22;q26)mat (negative FISH result for Smith- Magenis-Dieker Probe) | normal | – | – | – |
9b | M-1 | consanguineous marriage; facial dysmorphism; CHD; right kidney agenesis, left kidney size increase; undescended testicle; anal atresia | 46,XY,t(8;22)(p11.2;q22)mat | normal | – | – | – |
Inversions |
10a | F-7 | neuromotor retardation; seizures; growth retardation; microcephaly; facial dysmorphism; clinodactyly; pathology in brain MRI | 46,XX,inv(1)(q25.1q32.2) | 1q23.3q24.2(161969134-169579696)x1 | 7.6 Mb | loss | de novo |
11b | M-13 | ID; undescended testicle; advanced bone age; obesity; agitation; fragile X test normal | 46,XY,parinv(12)(p13.3q13.1)pat | normal | – | – | – |
12b | M-3 | consanguineous marriage; PSMR; growth retardation; microcephaly; facial dysmorphism; clinodactyly; joint hypermobility | 46,XY,inv(12)(p11q14)mat | normal | – | – | – |
13b | M-5 | consanguineous marriage; pectus excavates; pulmonary stenosis; cryptorchidism, micropenis; lytic bone lesions; mutation negative in RAF1, KRAS, SHOC2 genes | 46,XY,parinv(12)(q21.2q24.1)mat | normal | – | – | – |
Complex Chromosome Rearrangements |
14a | M-4 | PSMR; hypotonia; microcephaly; syndactyly; lack of eye contact | 46,XY,t(8;13)(q24.13;q21.2), ins(2)(p16.2q33.2q22.2) | 2q36.1q36.3(225194399-228263782)x1 | 3.0 Mb | loss | de novo |
15a | M-9 | PSMR; alopecia; hyperpigmentation; facial dysmorphism; bilateral cubitus valgus; accessory nipple on bilateral nipple line; tracheostomy | 46,XY,inv(3)(p13p25)t(11;18) (p13.5;q12.2) | 4q13.3(71013108-72174576)x1
4q13.3q21.2(73373677-76306815)x1 | 1.1 Mb 2.9 Mb | loss loss | de novo |
16a | M-1 | bilateral aniridia; cryptorchidism; micropenis; heart murmur; hypertonia of the lower extremities | 46,XY,t(3;15;21)(p13;q21.1; q22.3),t(4;16)(q31;p31.1) | 11p14.13(30031595-33045209)x1 | 2.5 Mb | loss | de novo |
17a | F-3 | PSMR; microcephaly; dystrophinopathy; myogenic EMG findings; walking difficulties | 46,X,t(X;13;17)(p21;q13;q22) | normal | – | – | – |
18 | M-3 | CHD; negative FISH result for DiGeorge syndrome | 46,XY,der(3)(15qter→15q22.3: :3p11.2→3qter)der(15)(15pter→ 15q22.3::3p26→3p11.2: :3p26→3pter) | normal | – | – | – |
19a | F-13 | mild ID; dystrophinopathy; Gowers’ sign; pektus ekskavatum; minimal facial dysmorphism; normal MLPA result | 46,X,t(X;8;14)(8qter→8q11: :Xp21→Xqter)(Xpter→Xp21: :8p21.1→8q11::14q13) | normal | – | – | – |
20a | M-4 | consanguineous marriage; neuromotor retardation; mild ID; facial dysmorphism; brachycephaly; hypoplastic scrotum | 46,XY,t(1;18)(q32.1;q23),t(5;12) (p14.2;q21.2) | 5q13.3-q14.1(74571645-77654540)x1
5q14.3(90604937-92259476)x1
5q15(93668778-95921236)x1
9p23p22.3(14030668-16317401)x1 | 2.4 Mb 1.6 Mb 1.9 Mb 2.3 Mb | loss loss loss loss | de novo |
21a | F-2 | facial dysmorphism; short neck; soft, dry skin; clinodactyly; bilateral clubfoot, talipes echi- novarus; hypoplastic clitoris; tooth grinding; multiple renal stones; partial ACC; normal MLPA result | 46,XX,t(11;13;18)(13pter→ 13q22::11p13→11pter; 13qter→13q22::11p13→11q24: :18q21→18qter;18pter→18q21: :11q24→11qter) | 11p14.3(22454510-246887178)x1
18q21.2q21.32(48286848-58934492)x1
21q11.2q21.1(15598880-18332856)x1 | 2.2 Mb 10.6 Mb 2.7 Mb | loss loss loss | de novo |