Table 1 Genotype–phenotype correlation of patients with deletion or duplication of 16p12–p13
Patient (Deciphercode)PhenotypePattern of inheritanceType of imbalanceDistal breakpoint (Mb)Proximal breakpoint (Mb)
1 (CHG00002371)Severe MR, IQ = 38, short stature (143 cm), microcephaly (51 cm), epilepsy, ataxiaParents not available for testingDeletion14.7–14.7516.3–16.77
2 (CHG00002372)Severe MR, short stature (150 cm), microcephaly (51 cm), epilepsy, pectus excavatum, limb spasticityAffected brother does not carry deletion14.7–14.7516.3–16.77
Parents not available for testing
3 (CHG00002374–)Moderate MR, normal stature (183 cm), normal head circumference (55,3 cm), behavioural problemsParents not available for testing14.7–14.7516.3–16.77
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 microcephalyPhenotypically normal father carries deletion14.7–14.7516.3–16.77
5Fetus 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 ageParents not available for testing14.7–14.7516.3–16.77
6 (CHG00001046)Moderate MR, normal stature (176 cm), normal head circumference (57.4 cm), behavioural problems, Hirschsprung diseaseMother does not carry duplicationDuplication14.7–14.7516.3–16.77
Father unavailable for testing
7 (LEI)00002370)MR, mild developmental delay, learning disabilities. Originally reported by Kriek et al.9de novo imbalance14.7–14.7516.3–16.77
8Severe 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 agePhenotypically normal father carries duplication14.7–14.7516.3–16.77
9Moderate 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 repeatParents not available for testing14.7–14.7516.3–16.77
10Microcephaly 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 duplication14.7–14.7516.3–16.77
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 bonesPhenotypically normal mother carries duplicationDuplication15.1–15.418.05–18.45
12MR, multiple congenital anomalies. Originally reported by Sharp et al.10Parents not available for testing15.1–15.418.3–18.5
13 (CHG00002373)Marked developmental delay, IQ = 38, short stature (150 cm), microcephaly (50,5 cm), neonatal seizuresPhenotypically normal mother carries deletionDeletion16.3–16.7718.3–18.4
  • MR, mental retardation; OFC, occiptofrontal circumference.