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Table 1 Clinical features seen in individuals with 7p partial trisomy reported in the literature

From: De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation

Karyotype Clinical features
46, XY, der(22)t(7;22)(p21;q13)pat Retarded mental and motor development, congenital heart abnormalities, high broad palate, spilt uvula, microbrachycephaly, increased transillumination of the frontal area of the skull, right ventricular hypertrophy, atrophy of the brain [27].
46, XX, der(5)t(5;7)(p15;p15)pat A 4-month-old female infant with asymmetric cranium with widely patent anterior fontanelle and metopic suture, deep widow's peak, hypertelorism, bilateral choanal atresia, prominent nasal bone, low set and rotated ears, maxillary hypoplasia, high arched palate, micrognathia, arachnodactylty with contractures of the interphalangeal joints, congenitally dislocated hips, vertical talus [26].
46, XX, ?der(22)t(7;22)(p15;q13)pat Hypotonic, elongated skull with a widely separated metopic suture, microphthalmos, mongoloid slant, skeletal abnormalities such as arachnodactyly, flexion deformity of the wrists, talipes calcaneo-valgus, and widely separated first and second toes; unilateral, single palmar crease; died at 8 weeks.
Necropsy study showed hydrocephalus and microgyria, hypertrophic left ventricle with persistent ductus arteriosus, bilateral cystic kidneys [28].
46, XX, der(22)t(7;22)(p15;q13)pat
[Sib of the previous case]
A long face with narrow palpebral fissures, with a slight mongoloid slant to the eyes, epicanthic folds, broad and flat nasal bridge, high and arched palate, prominent maxilla with a thick lower lip, slight weakness of the left arm and shoulder, remained extremely retarded at the age of 9 years [28].
46, XX, der(21)t(7;21)(p15;p12)mat
[41]
Not available
46, XY, der(11)t(7;11)(p15;q25)mat
46, XX, der(11)t(7;11)(p15;q25)mat
Psychomotor retardation, growth retardation after birth, wide anterior fontanel, left esotropia, sacral dimple, bilateral undescended testis, whorls on six fingers, unilateral palmar transverse crease, bilateral high axial triradius
Fetus conceived subsequently with micrognathia; aborted [42].
Three girls with partial trisomy 7p from two families with balanced translocations involving 7p Several congenital malformations - heart defects, cleft palate, postaxial polydactyly, choanal stenosis/atresia [43].
46, X, der(X)t(X;7)(q28;p15) Hypotonic and severely retarded child, asymmetric face, slight hypertelorism, antimongoloid slant, strabismus, exophoria, exotrophia, low set ears, high arched palate, joint laxity, bilateral allux valgus, bilateral flat feet, genu valgum recurvatum, alive at 11 years [44].
46, XY, der(8)t(7;8)(p15;p22) A 6-year-old boy with high and large forehead flattened at the centre due to the abnormally large and persistent gaping anterior fontanelle and (sagittal) metopic sutures, consequent hypertelorism, broad nasal bridge, cutis laxa, often denounced by folded neck, joint, cardiovascular anomalies, psychomotor delay, clubfoot, a possible typical dermatoglyphic pattern [45].
46, XY, der(9)t(7;9)(p21.2;p23.5)
(Back et al.1997)
Not available
46, XY, der(21)t(7;21)(p21.2;q22.3)mat 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible [46].
46, XX, der(9), t(7;9)(p15;p24) Generalized developmental deficits, high and large forehead, hypertelorism, broad nasal bridge, hypothyroidism, obesity, cerebral palsy [25].
46, X, der(Y)t(Y;7)(p11.32;p15.3) A three-month-old boy with growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, severe developmental delay [32].