Table 1 Clinical features of subjects with duplications involved in chromosome Xq27.1q28
Reference | Rio et al. [12] | Â | Â | Hickey et al. [13] | Hureaux et al. [14] | Â | Â | Zhuang et al. [15] | Wei et al. [16] | Arya et al. [17] | Â | Â | Â | Â | Â |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Case 1 | Case 2 | Case 3 | Case 1 | Case 1 | Case 2 | Case 3 | Case 1 | Case 1 | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Our case | |
Age | 35Â years | 59Â years | 29Â years | 36Â years | Fetus | Fetus | Fetus | 7Â years | 5Â years | NA | 2.32Â years | Fetus | NA | NA | Â Prenatal |
Size/location | 5.1Â Mb/Xq27.3q28 | 5.1Â Mb/Xq27.3q28 | 5.1Â Mb/Xq27.3q28 | Xq27.3q28 | 662Â kb/Xq27.1 | 560Â kb/Xq27.1 | 9.1Â Mb/Xq27.1q28 | 2.2Â Mb/Xq27.1q27.2 | 1.4Â Mb/Xq27.1q27.2 | 323.8Â kb/Xq27.1 | 396Â kb/Xq27.1 | 481Â kb/Xq27.1 | 11Â Mb/Xq27.1 | 481Â kb/Xq27.1 | Â 16.4Mb/Xq27.1q28 |
IUGR |  +  |  +  |  +  | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |  Hydrocephalus; multiple congenital malformations; enlarged gallbladder |
Developmental retardation | NA | NA | NA |  +  | NA | NA | NA | NA | NA |  +  | NA |  +  |  +  |  +  |  |
Absent speech | - | - | - |  +  | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |  |
Intellectual disability |  +  |  +  |  +  |  +  | NA | NA | NA | NA | - | NA | NA | NA | NA |  +  |  |
Short stature |  +  |  +  |  +  |  +  | NA | NA | NA | NA | - | NA | NA | NA |  +  |  +  |  |
Hands or feet abnormalities |  +  |  +  |  +  |  +  |  +  |  +  |  +  | NA | - | NA | NA | NA | NA | NA |  |
Dysmorphic features |  +  |  +  |  +  |  +  |  +  |  +  |  +  | - | - | NA |  +  | NA | NA | NA |  |
Undescended testis |  +  |  +  |  +  |  +  | NA | NA | NA | - |  +  | NA | NA | NA | NA | NA |  |
Small testes |  +  |  +  |  +  |  +  | NA | NA | NA | - | - |  +  |  +  |  +  | NA |  +  |  |
Obesity | NA | NA | NA |  +  | NA | NA | NA | - | NA | NA | NA | NA | NA | NA |  |
Myelomeningocele | - | - | - | - |  +  |  +  |  +  | NA | NA | NA |  +  |  +  | NA | NA |  |
Chiari II malformation | - | - | - | - |  +  |  +  |  +  | NA | NA | NA | NA | NA | NA | NA |  |
Megalothymus | NA | NA | NA | NA | NA | NA |  +  | NA | NA | NA | NA | NA | NA | NA |  |
Ambiguous sex | NA | NA | NA | NA | NA | NA | NA |  +  | NA | NA | NA | NA | NA | NA |  |
MRI detection | NA | NA | NA | NA | NA | NA | NA | NA | NA | Brain MRI showed a hypoplastic anterior pituitary and ectopic posterior pituitary tissue bright signal (T1) | MRI identified hydrocephalus and agenesis of the corpus callosum | Pituitary MRI and the initial endocrine evaluation were normal | Pituitary MRI showed a hypoplastic anterior pituitary and ectopic posterior pituitary bright signal | Brain MRI showed partial agenesis of the corpus callosum, an absent septum pellucidum and the presence of heterotopic grey matter | Â |
Endocrine investigation | NA | NA | NA | Low serum testosterone; low normal FSH and LH; low IGF-1; comprehensive metabolic profile and thyroid function tests were normal. | NA | NA | NA | Low luteinizing hormone, follicle-stimulating hormone, testosterone; serum progesterone and prolactin were normal. | Low luteinizing hormone; normal follicle stimulating hormone, anti-mullerian hormone, prolactin, and 17-α-hydroxyprogesterone. | Adrenal insufficiency and central hypothyroidism | GH deficiency | Normal | GH deficiency and borderline TSH deficiency. | GH deficiency |  |