Microdeletion 3q Syndrome

Abstract

The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life.

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

“…We performed SNP array analysis also in a 3q deleted patient with DWM and blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), whose detailed clinical features have been recently published [8]. This patient was found to carry a 19.2 Mb deletion of the region 3q22.1q25.1, from 132381260 bp (CN_995516) to 151675126 bp (CN_998137), including the FOXL2 , ZIC1 and ZIC4 genes.…”

“…Based on this analysis, we propose the diagnosis of WS to be made based on the occurrence of at least four out of five core gestaltic features (coarse facies; prominent or wide triangular shaped nasal tip; high arched or upsweeping eyebrows; full/everted lower lip; bushy eyebrows often with synophrys). Accordingly, we diagnosed 12 patients with WS [6,9,22,23,25-29] and compared them with 15 patients who did not match the proposed criteria [7,8,12,16-18,30-37] (Table 1 and Additional file 1: Table S1). Among this second group, the occurrence of each gestaltic feature was much rarer than in the WS group.…”

A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI

“…In Figure these seven patients with clinical diagnosis of WS and additional cases of 3q deletion, without a clinical diagnosis of WS are shown along with our case to aid in narrowing the WS critical region [Rea et al, ; Lim et al, ; Ramieri et al, ; Weber et al, ]. Patient 12 has a deletion that distally overlaps with ours, but apparently no clinical diagnosis of WS [Lim et al, ].…”

“…With the exception of the above patient, we suggest that the proximal breakpoint of WS critical region is given by the distal breakpoint of patient 11 [Ramieri et al, ; Ferraris et al, ] whose clinical description and the pictures reported are not reminiscent of WS. The distal one is given by the distal breakpoint of our patient.…”

“…Two genes are present in this region, MBNL1 and TMEM14E. Pt1: Tohyama et al []; Pt2: Willemsen et al [], case1; Pt3: Willemsen et al [], case2; Pt4: Willemsen et al [], case3; Ko et al []; Pt5: Moortgat et al []; Pt6: Ferraris et al [], case1; Pt7: Ferraris et al [], case2; Pt8: present case; Pt9: Rea et al []; Pt10:Weber et al []; Pt11: Ramieri et al []; Pt12: Lim et al []. [Color figure can be viewed at wileyonlinelibrary.com].…”