Table 1 Clinical information for the cases with 15q24 deletions
Case number | Sex | Age | Variation | Oringin | Abnormal probes | Clinical manifestations | |
|---|---|---|---|---|---|---|---|
P245 | P371 | ||||||
1 | Female | 55 days | 15q24 homozygous deletion | Matermal | CYP1A1-2 | CYP1A1-1 CYP1A1-3 | Laryngeal stridor, Lower limbs swelling |
Mother of case 1 | Female | 32 years | 15q24 heterozygous deletion | Unknown | CYP1A1-2 | CYP1A1-1 CYP1A1-3 | Normal |
2 | Male | 2 years | 15q24 heterozygous deletion | De novo | SEMA7A-11 | SEMA7A-15 SEMA7A-3 | Speech or language difficulty, little vocabulary Motor delay, walked at 18 months Poor response when called Absence of pointing Social interaction impairment Hyperactivity DQ: 72 CARS: 19 |
3 | Female | 3 years | 15q24 heterozygous deletion | De novo | SEMA7A-11 | SEMA7A-15 SEMA7A-3 | Speech or language difficulty, nonverbal vocabulary Abnormal behavior, listen to songs repetitively, jump aimlessly Poor response when called Absence of pointing Social interaction impairment No eye contact Unable to follow instruction Hyperactivity Timid DQ: 53 CARS: 30 |
4 | Female | 3 years | 15q24 heterozygous deletion | De novo | CYP1A1-2 SEMA7A-11 | PML-2 PML-9 SEMA7A-15 SEMA7A-3 CLK3-4 CYP1A1-3 CYP1A1-1 CYP1A2-4 CSK-12 | Speech or language difficulty, unable to speak a complete sentence Motor delay, walked at 19 months Abnormal behavior, Unable to follow instruction DQ: 62 CARS: 27 |
5 | Female | 3 years | 15q24 heterozygous deletion | De novo | CYP1A1-2 SEMA7A-11 | PML-2 PML-9 SEMA7A-15 SEMA7A-3 CLK3-4 CYP1A1-3 CYP1A1-1 CYP1A2-4 CSK-12 | Speech or language difficulty, speaking single word Motor delay, walked at 19 months Poor understanding Special facial appearance, wide eye distance DQ: 81 CARS: 22 |