Table 1 Genotype–phenotype correlation of patients with deletion or duplication of 16p12–p13
| Patient (Deciphercode) | Phenotype | Pattern of inheritance | Type of imbalance | Distal breakpoint (Mb) | Proximal breakpoint (Mb) |
| 1 (CHG00002371) | Severe MR, IQ = 38, short stature (143 cm), microcephaly (51 cm), epilepsy, ataxia | Parents not available for testing | Deletion | 14.7–14.75 | 16.3–16.77 |
| 2 (CHG00002372) | Severe MR, short stature (150 cm), microcephaly (51 cm), epilepsy, pectus excavatum, limb spasticity | Affected brother does not carry deletion | 14.7–14.75 | 16.3–16.77 | |
| Parents not available for testing | |||||
| 3 (CHG00002374–) | Moderate MR, normal stature (183 cm), normal head circumference (55,3 cm), behavioural problems | Parents not available for testing | 14.7–14.75 | 16.3–16.77 | |
| 4 (CHG00001230) | Term fetus; autopsy showed holoprosencephaly, nose agenesis, midline upper lip notch, midline cleft palate, dysplastic external ear and atretic auditory canal on right, preauricular skin tags bilaterally, relative microcephaly | Phenotypically normal father carries deletion | 14.7–14.75 | 16.3–16.77 | |
| 5 | Fetus at 21 weeks; autopsy showed post-hemorrhagic hydrocephalus with marked ventriculomegaly, cortical thinning, hypoplastic falx cerebri, cleft lip on right, two preauricular skin tags on right, and cleft T1 and T3 vertebral bodies. Physical growth parameters were consistent with gestational age | Parents not available for testing | 14.7–14.75 | 16.3–16.77 | |
| 6 (CHG00001046) | Moderate MR, normal stature (176 cm), normal head circumference (57.4 cm), behavioural problems, Hirschsprung disease | Mother does not carry duplication | Duplication | 14.7–14.75 | 16.3–16.77 |
| Father unavailable for testing | |||||
| 7 (LEI)00002370) | MR, mild developmental delay, learning disabilities. Originally reported by Kriek et al.9 | de novo imbalance | 14.7–14.75 | 16.3–16.77 | |
| 8 | Severe learning disabilities with limited use of language, poor vocabulary and repetitive speech, epilepsy. Challenging, agitated behaviour marked by shouting, hand-clapping, kicking, hitting and throwing objects at people, although this has improved with age | Phenotypically normal father carries duplication | 14.7–14.75 | 16.3–16.77 | |
| 9 | Moderate developmental delay, behavioural problems (increased impulsivity, limited attention span). Large simple ears, thick lips, large tongue, large puffy hands and small nails. Also has an expansion of the FRAXA triplet repeat | Parents not available for testing | 14.7–14.75 | 16.3–16.77 | |
| 10 | Microcephaly found at 20 weeks gestation. At 4 years of age OFC 44 cm (P3 = 48.6 cm). Brachycephaly, telecanthus, abnormal eyebrows, deep set eyes, epicanthic folds, pinched nasal tip, prominent nose, small jaw, VSD, umbilical hernia, deep palmar and plantar creases, speech delay, hyperactive behavioural with aggressive episodes. Mother has small head (no OFC) | Mother with mild phenotype carries the duplication | 14.7–14.75 | 16.3–16.77 | |
| 11 (CHG00000993) | Feeding and respiratory problems as neonate. Asymmetric face with left facial nerve paresis, short neck with reduced mobility, bilateral epicanthal folds, strabismus, choroid colobomata, atresia of right choana, ASDII, unique right kidney with double ureters, aplasia of semicircular canals, abnormal middle ear bones | Phenotypically normal mother carries duplication | Duplication | 15.1–15.4 | 18.05–18.45 |
| 12 | MR, multiple congenital anomalies. Originally reported by Sharp et al.10 | Parents not available for testing | 15.1–15.4 | 18.3–18.5 | |
| 13 (CHG00002373) | Marked developmental delay, IQ = 38, short stature (150 cm), microcephaly (50,5 cm), neonatal seizures | Phenotypically normal mother carries deletion | Deletion | 16.3–16.77 | 18.3–18.4 |
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MR, mental retardation; OFC, occiptofrontal circumference.
