Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

BMC Medical Genomics

Table 1 Phenotypes associated with reported interstitial deletions involving 6p25.1p24.3

	Present case	Mirza et al. case 5 [21]	Mirza et al. case 6 [21]	Davies et al. [7]	Kuipers et al. case 2 [14]
Deleted region	4,745,144-10,384,769	2,090,000-8,330,000^*	4,050,000-9,910,000^*	6,100,000-10,450,000^*	5,968,242-8,882,919
Size (Mb)	5.64	5.26	5.86	4.35	2.91
Age at first examination	2y2m	6 m	1y1m	1y11m	4y
Sex	Female	Female	Male	Male	Male
Growth delay	Mild
Motor development delay		Moderate			Mild
Speech delay	Mild
Hypotonia		+			+
Cardiac anomalies	PFO		PDA/ASD	ASD/VSD
Conductive hearing loss	+
Craniofacial dysmorphism
Prominent forehead					+
Low-set ears		+			+
Posteriorly rotated ears		+
Synophrys	+
Hypertelorism	+	+	+	+
Short palpebral fissures				+
Blue sclera		+	+
Microphthalmia with corneal clouding				+
Broad nasal bridge	+	+			+
Flat nose			+	+
Nasal tip			Bulbous		Full
Short philtrum	+				+
Highly arched palate		+
Bilateral cleft lip			+
Downturned corners of the mouth	+
Micrognathia/retrognathia				+	+
Widely spaced and late erupting teeth	+
Extremities
Long fingers		+			+
Clinodactyly	+				+
Overlapping toes	+		+
Mild joint hypermobility		+			+
Talipes				valgus
Short neck		+
Pectus excavatum	+	+	+	+
Hemangioma	+ +	+			+
Umbilical hernia	+	+	+
Hair abnormalities					+

Note: + feature present, ^*the breakpoints are estimated based on FISH data [7, 21]; PFO patent foramen ovale, PDA patent ductus arteriosis, ASD atrial septal defect, VSD ventricular septal defect

ISSN: 1755-8794