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 features	Common features of distal trisomy 6p [1–4]	Common features of distal monosomy 6q [5–8]	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		+	+		+		+
Microcephaly	+		+	+		+
Prominent forehead	+		−			+	+
Anterior-chamber eye defects	+		−
Retinal anomalies		+	−
Glaucoma	+		−
Narrow and short palpebral fissures	+		−
Epicanthal folds		+	+			+
Ptosis	+		−
Ocular hypotelorism	+		−
Other eye abnormalities			+		+	+	+
Prominent nasal bridge	+		−
Short bulbous nose	+		−		+
Microstomia	+		−	+		+	+
Thin lips	+		−			+	+
Abnormal dentition			+	+
Low-set ears	+		+	+		+	+
Ear anomalies	+	+	+	+		+	+
Short neck		+	−				+
Congenital heart defects	+		−		+	−	−
Glomerulopathy	+		−
CAKUT	+		+	+	+	+	+	+
Spinal cord anomalies		+	+
Vertebral anomalies		+	+	+
Talipes equinovarus			−		+	+
Hemangioma			−		+	+
Growth deficiency	+	+	+			+	+
IUGR			−	+			+
Failure to thrive	+		+	+	+	+	+
Developmental delay	+	+	+	+		+	+
Intellectual disability	+	+	+			+	+
Seizures		+	+				+
Feeding difficulties		+	+			+	+
Hypotonia		+	+
Speech delay	+	+	−			−	−
Absent speech			+			+	+
Other features			a	b	c	d

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.