Table1 Molecular cytogenetics findings of recombinant chromosome 10 resulting from familial pericenric inversion
Dutrillaux et al.[6] | Rodriguez et al.[7] | Ohba et al.[8] | Kulharya et al.[9] | Kozma and Meck [10] | Ciuladaite et al.[5] | Our case | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Patient1 | Patient2 | Patient3 | Patient1 | Patient2 | Patient1 | Patient2 | |||||
Age/Sex | Newborn/Male | Newborn /Male | Newborn /Female | Newborn /Male | 2.5/Male | Fetus/Female | 4/Female | 36/Male | 13/Female | 28/Female | Fetus/Male |
Trisomic segment | 10q24 → q26 | 10q24 → qter | 10p11.2 → pter | 10p11.2 → pter | 10p11.2 → pter | 10p11.2 → pter | 10p11.2 → pter | 10p11.2 → pter | 10p15.1 → pter | 10q26.12 → qter | 10q26.13 → qter |
Monosomic segment | 10p15 → pter | 10p15 → pter | 10q25.2 → qter | 10q26 → qter | 10q26 → qter | 10q26 → qter | 10q26 → qter | 10q26 → qter | 10q26.12 → qter | 10p15.1 → pter | 10p11.21 → pter |
Breakpoints | 10p15-q24 | 10p15-q24 | 10p11.2-q25.2 | 10p11.2-q26 | 10p11.2-q26 | 10p11.2-q26 | 10p11.2-q26 | 10p11.2-q26 | 10p15.1-q26.12 | 10p15.1-q26.12 | 10p11.21-q26.13 |
Inheritance | Maternal | Maternal | Maternal | Maternal | Maternal | Maternal | Maternal | Maternal | Maternal | Maternal | Paternal |
Clinical phenotypes | Facial deformities, finger deformities, psychomotor development delay, severe hypotonia | Facial deformities, long thin fingers | Facial deformities, clinodactyly of the fifth fingers, clenched hands, club foot, ocular abnormalities | Facial deformities, hypotonic and can not rolled over | Facial deformities, right exotropia, bilateral single palmar creases and fifth finger clinodactyly, absent fifth toenails, moderate motor delay | stillborn occurred after delivery | Facial deformities, increased length of the palm, foot deformities, poor physical growth, severe to profound intellectual disability | Facial deformities, unilateral cleft and corresponding absent tooth, partial hearing loss, and a heart murmur, growth and intellectual disability, increased palm length | Facial deformities, psychomotor and language development delay, strabismus, malocclusion of teeth, tapering fingers, transversal crease in the left palm, deformed feet | Psychomotor development delay, obesity, arched eyebrows, low-set ears, short philtrum | Spontaneous abortion occurred in the first trimester |