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Table 1 Summary of clinical and genetic features of ten previously reported and present cases with 3q26-3q28 microdeletions

From: 3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities

  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