Table 1 Summary of clinical phenotype in females with de novo duplications Xq23-q26

This study

Xq23-Xq26.3 (20 Mb), inverted duplication

De novo

A 26-year-old female with extremely short stature and mild mental deficiency. She has proportionate dwarfism with a height of 135.6 cm (< 2SD) and a weight of 32.15 kg (< 2SD). The patient has had a poor appetite and slow eating since childhood. She was irritable and bad-tempered, hypotonic, and had learning difficulties. She had deformities such as small hands, tapered fingers, right fifth finger flexion, triangular face, slight hypertelorism, thin lips, and mild micrognathia. Ultrasonography of the abdomen revealed a unilateral horn with a residual left uterine horn. She had regular but reduced menstruation. She was married for two years but had not conceived without contraception.

Karyotype;

Array comparative genomic hybridisation;

Short tandem repetition;

X-Inactivation Assay

Optical genome mapping

Garcia-Heras et al. [27]

Xq23-q26

De novo

A 3-year-old girl with growth retardation, developmental delay, and minor anomalies(Increased gap between toes 1 and 2 with 2–3 partial syndactyly. Abducted and hypoplastic thumb.).

Karyotype,

FISH,

X-Inactivation Assay

Armstrong et al. [28]

Xq22.3-q26

De novo

A 7-year-old girl with microcephaly. Her height is at the 10th percentile, and her hands and feet are strikingly small. She is hypotonic and delayed. Asymmetries of muscle strength and leg and foot length have been notable. She has mild unilateral ptosis. She has some features of Turner syndrome and multiple other minor anomalies. The pregnancy was complicated by intrauterine growth retardation, and she was distressed during labor. During her first year, she fed poorly and failed to thrive.

Karyotype,

X-inactivation assay

Deirdre et al. [29]

Xq22.3-Xq26.1

(22.9 Mb)

De novo

A 3-year-old girl presented at 11 months of age with moderate developmental delay and slow growth. Her birth weight was 2.02 kg when elective Caesarean section at 38 weeks gestation. Postnatal weight gain was slow. Development is moderately delayed; gross motor skills are delayed. Her fine motor function is delayed. She has generalized hypotonia but was not a focal neurological deficit. She is mildly dysmorphic, with an elongated, oval face, upslanting palpebral fissures, almond-shaped eyes, epicanthic folds, and broad nasal tip. Her speech is delayed, but she is a sociable little girl.

Karyotype,

Array comparative genomic hybridisation

Decipher patient: 363,883 (https://www.deciphergenomics.org/)

Xq24-Xq26.2(15.59 Mb)

Unknown

Age at last clinical assessment: less than one year. Chromosomal sex: 46,XX. Abnormal 3rd finger morphology, bilateral talipes equinovarus, broad forehead, hypertelorism, intrauterine growth retardation, single transverse palmar crease.

Unknown