Case Reports in Genetics / 2020 / Article / Tab 1

Case Report

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination

Table 1

Comparison of phenotypic features of patients with distal trisomy 6p and distal monosomy 6q.

Phenotypic featuresCommon features of distal trisomy 6p [14]Common features of distal monosomy 6q [58]Case 1: our patient 46,XX 6p25.3p24.3 dup; 6q27-qter del (12 y/o)Case 2: Gazala et al. [10], patient 46,XX 6p21.2-pter dup; 6q25.3-qter del (4 y/o)Case 3: Pearson et al. [11], patient 46,XX 6p21-pter dup; 6q27-qter del (died at 2 months old)Case 4: Wauters et al. [12], patient 46,XX 6p23-pter dup; 6q27-qter del (2 y/o)Case 5: Wauters et al. [12], patient 46,XY 6p23-pter dup; 6q27-qter del (8 y/o)Case 6: Wauters et al. [12], patient 46,XY 6p23-pter dup; 6q27-qter del (elective termination at 13 weeks)

Abnormalities of the corpus callosum++
Other brain abnormalities++++
Prominent forehead+++
Anterior-chamber eye defects+
Retinal anomalies+
Narrow and short palpebral fissures+
Epicanthal folds+++
Ocular hypotelorism+
Other eye abnormalities++++
Prominent nasal bridge+
Short bulbous nose++
Thin lips+++
Abnormal dentition++
Low-set ears+++++
Ear anomalies++++++
Short neck++
Congenital heart defects++
Spinal cord anomalies++
Vertebral anomalies+++
Talipes equinovarus++
Growth deficiency+++++
Failure to thrive++++++
Developmental delay++++++
Intellectual disability+++++
Feeding difficulties++++
Speech delay++
Absent speech+++
Other featuresabcd

Note: a: recurrent gastrointestinal illnesses, striae of the breasts, and sleep apnea; b: triangular face; c: cranial synostosis; d: hypertonia and rectal prolapse. (+) indicates that feature is present. (−) indicates that feature is absent. Blank spaces indicate features were not reported as present or absent. IUGR: intrauterine growth restriction. CAKUT: congenital anomalies of the kidney and urinary tract. y/o: years old.

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