Table 1 Laboratory findings and clinical features of 5 patients with 12q13.13 duplication
From: Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
Features | Present | Bertoli [2] | Ansari [1] | DECIPHER 271054 | DECIPHER 338566 |
|---|---|---|---|---|---|
Age/Gender | 14/M | 6/F | NA/F | 14/M | 9/F |
Size | 802 Kb | 1.2 Mb | 520 Kb | 484 Kb | 370 Kb |
Chromosome regions | 12q13.13 | 12q13.13q13.2 | 12q13.13 | 12q13.13 | 12q13.13 |
Genomic coordinates | |||||
(hg18)a | 51,227,241–52,353,011 | ||||
(hg19) | 53,217,136–54,018,772 | 52,940,974–54,166,744 | 53,582,733–54,102,733 | 53,627,092–54,111,152 | 53,637,649–54,007,964 |
# of genes | 27 | 57 | 18 | 16 | 17 |
HOXC cluster | None | None | None | None | None |
SP1, SP7, NPFF, MAP3K12, PCBP | Yes | Yes | Yes | Yes | Yes |
Inheritance | Unknown | De novo | Unknown | De novo | De novo |
Developmental Anomalies | ID, ADHD, language difficulty | ID, language difficulty | DD, ID | ID | ID |
Craniofacial anomalies | Dolichocephaly, prominent occiput, bifid uvula, high arched palate. | Microcephaly, trigonocephaly cleft palate | |||
Dysmorphic facial features | Long and narrow face, high arched heavy eyebrows with medial flare, hypertelorism, esotropia, broad nasal bridge and tip, short philtrum, receding anterior hairlines, auricular tubercle | Long face, high arched eyebrows, prominent glabella, hypertelorism, prominent eye, lagoph-thalmos, shallow orbits, epicanthal folds, hypoplastic nasal alae, high nasal bridge, low-set ears, thin upper lip | CdLS-like phenotype | Abnormal face (no details described) | |
Hand and foot anomalies | hyperconvex nails, stub thumbs, collapse of arches of feet | Small hands and feet, 2nd toe clinodactyly | |||
Skeletal anomalies | Mild scoliosis, coned-shaped epiphyses of distal phalanges of 2nd-5th digits | ||||
Other | Dry skin, eczema on dorsum | Ataxia walk, corneal sclerosis, progeroid hands | |||