Table 1 Summary of clinical and genetic features of ten previously reported and present cases with 3q26-3q28 microdeletions
Mandrile et al. [7] | Zarate et al. [8] | Dasouki et al. [9] | Sahin et al. [10] | |||
|---|---|---|---|---|---|---|
Patient 1 | Patient 2 | Patient 3 | ||||
Chromosomal regions (hg19) | 3q26.33-3q27.2 (chr3:181,648,378–185,786,898) | 3q26.33-3q27.2 (chr3:181,692,255–185,969,168) | 3q27.1-3q27.2 (chr3:183,047,473–185,140,522) | 3q26.33-3q27.5 (chr3:182,189,525–187,212,935) | 3q26.33-3q27.1 (chr3:182,470,516–184,469,308) | 3q26.33-3q27.3 (chr3:182,507,317–186,845,923) |
Size of deletion | 4.14 Mb | 4.28 Mb | 2.09 Mb | 5 Mb | 2 Mb | 4.3 Mb |
Inheritance | De novo | De novo | Unknown (not maternal) | Unknown | De novo | Unknown |
Sex | Male | Male | Female | Female | Male (47,XXY) | Female |
Age at last examination | 6 years | 18 years | 12 years | 16 years | 9.5 years | 7 years |
Oligohydramnios | No | No | No | No | No | Yes |
Intrauterine growth restriction | Yes | Yes | Yes | Yes | Yes | Yes |
Short stature | Yes | Yes | Yes | Yes | Yes | Yes |
Feeding problems | Yes | Yes | Yes | Yes | No | No |
Microcephaly | Yes | Yes | No | Yes | Yes | Yes |
Cognitive abnormalities | Developmental delay, severe intellectual disability | Developmental delay, severe intellectual disability | Developmental delay, learning disability, borderline IQ | Developmental delay, intellectual disability | Developmental delay | Developmental delay, intellectual disability |
Behavioral abnormalities | No | Hyperactivity | ADHD, an extremely friendly personality | No | Asperger syndrome | No |
Seizure | No | Tonic seizure at birth | No | Tonic–clonic and myoclonic photo-convulsive seizures | No | No |
Hypotonia | Yes | Yes | Yes | Yes | Yes | No |
Facial dysmorphisms | Yes | Yes | Yes | Yes | Yes | Yes |
Hands abnormalities | Clinodactyly (4th finger) | No | Mildly tapered fingers with flattening of the ulnar borde | Clinodactyly (5th finger) | No | No |
Feet abnormalities | Pes planus, third toes overlap with fourth toes | Pes planus, abnormal foot position | Mild pes planus | Pes planus, overlapping toes | No | No |
Dental abnormalities | Yes | Yes | Yes | Yes | Yes | No |
Heart defects | Patent ductus arteriosus | No | No | No | No | Patent foramen ovale, mild pulmonary hypertension |
Other findings | Recurrent upper airway infections, inguinal hernia, mild kyphosis and pectus carenatum, joint laxity | Recurrent otitis media, conductive hearing loss, delayed puberty | Recurrent otitis media, astroesophageal reflux, multiple freckles of the left forearm and café au lait spot of left lower flank, pre-diabetes | Sensorineural hearing loss, severe gastroesophageal reflux, mild generalized hypertonia at 16 | Thrombocytopenia, recurrent infections, easy bruising, tremors | Diaphragm evantration, irregular respiration and tachypne, bilateral segmental perfusion defects |
Bouman et al. [11] | Ounap et al. [12] | This study | Consensus | ||
|---|---|---|---|---|---|
Proband-1 | Proband-2 | ||||
Chromosomal regions (hg19) | 3q26.33-3q27.3 (chr3:183,220,510–189,409,266) | 3q26.33-3q28: (chr3:182,674,821–191,025,402) | 3q27.1-3q28 (chr3:183,011,106–187,947,036) | 3q27.1-3q27.2 (chr3:182,950,371–185,324,970) | Smallest region of overlap: 3q27.1 (chr3:183,220,510–184,469,308) |
Size of deletion | 6.18 Mb | 8.35 Mb | 4.93 Mb | 2.37 Mb | 1.2 Mb |
Inheritance | De novo | Unknown | De novo | Unknown (not maternal) | 5 De novo, 5 unknown |
Sex | Female | Female | Male | Female | 4 Male and 6 Female |
Age at last examination | Fetus of 22 + 1 weeks | 16 years | 8 years | 3 years | Age range: Fetus of 22 + 1 weeks-18 years |
Oligohydramnios | No | No | Yes | Yes | 3/10 |
Intrauterine growth restriction | Yes | Yes | Yes | Yes | 10/10 |
Short stature | N/A | Yes | Yes | Yes | 9/9 |
Feeding problems | N/A | Yes | Yes | Yes | 7/9 |
Microcephaly | Yes | Yes | Yes | Yes | 8/10 |
Cognitive abnormalities | N/A | Developmental delay, mild Intellectual disability | Developmental delay, intellectual disability | Developmental delay | 9/9 |
Behavioral abnormalities | N/A | Tics and nail biting | No | No | 4/9 |
Seizure | N/A | No | No | No | 2/9 |
Hypotonia | N/A | Yes | No | No | 6/9 |
Facial dysmorphisms | Yes | Yes | Yes | Yes | 10/10 |
Hands abnormalities | Bilateral clinodactyly (5th finger) | Clinodactyly (5th finger) | Arachnodactyly | No | 6/10 |
Feet abnormalities | Bilateral club feet | Mild left Club foot | No | No | 6/10 |
Dental abnormalities | N/A | Yes | Yes | N/A | 7/8 |
Heart defects | Atrial septal defect, coarctation | Supravalvular aortic and pulmonary stenosis | No | No | 4/10 |
Other findings | Clitoromegaly | Brain atrophy in frontal lobe, sensorineural hearing loss, hypertonia and increased deep tendon reflexes at 16 | Hypertonia since 3 months, dolichocephaly | Hyperbilirubinemia | Various |