Monosomy 16q: a distinct syndrome Apropos of a de novo del(16) (q2100q2300)

Abstract

A 2‐month‐old boy with delayed growth and development, brachycephaly, large anterior fontanelle, low‐set folded ears, micrognathia, aortic coarctation, floppy abdominal muscles, and pes varus, was found to have a 46, XY, del(16)(q2100q2300) de novo karyotype. This observation corroborates both the distinctness of the 16q monosomy syndrome and the pathogenetic role of the band 16q21.

Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21–q22.1

“…Although two critical regions for the main clinical findings of interstitial deletion syndrome of 16q have been discussed in the literature, 14 patients (including this patient) among the 21 reported patients with 16q deletion syndrome showed the deletion around the 16q21-q22 region, which is the most common region (ranges of the deletions shown in Fig. 3) [Fryns et al, 1977[Fryns et al, , 1981Taysi et al, 1978;Lin et al, 1983;Rivera et al, 1985;Cooke et al, 1987;Natt et al, 1987Natt et al, , 1989Naritomi et al, 1988;Casamassima et al, 1990;Edelhoff et al, 1991;Fujiwara et al, 1992;Callen et al, 1993;Chen et al, 1998]. Among these 14 patients with deletions of the 16q22 region including our patient, nine patients showed CHD (64%), which is the most common major organ malformation [Goldmuntz, 2004] (Table II).…”

“…MAPCA are likely to be dilated bronchial arteries, and appear to have a limited growth potential. The term Fryns et al [1977]; (2) Taysi et al [1978]; (3) Fryns et al [1981]; (4) Lin et al [1983]; (5) Elder et al [1984]; (6) Hoo et al [1985]; (7) Rivera et al [1985]; (8) Krauss et al [1987]; (9) Natt et al [1987,1989] …”

“…The first is that the types of CHD reported in 16q deletion syndrome are variable and there is no common feature, i.e. ventricular septum defect [Fryns et al, 1977], endocardial cushion defect [Lin et al, 1983], aortic coarctation [Rivera et al, 1985], total anomalous pulmonary venous drainage [Cooke et al, 1987], aortic stenosis [Natt et al, 1989], common atrioventricular canal and patent ductus arteriosus [Edelhoff et al, 1991], pulmonary atresia with hypoplastic right ventricle and tricuspid valve [Callen et al 1993], and ventricular septal defect and pulmonary artery branch stenosis [Khan et al, 2006]. TOF associated with PA and MAPCA has been reported only in our patient.…”

“…There are at least 20 reported patients with deletion of chromosome 16q in the literature: [Fryns et al, 1977[Fryns et al, , 1981Taysi et al, 1978;Lin et al, 1983;Elder et al, 1984;Hoo et al, 1985;Rivera et al, 1985;Cooke et al, 1987;Krauss et al, 1987;Natt et al, 1987Natt et al, , 1989Naritomi et al, 1988;Casamassima et al, 1990;Edelhoff et al, 1991;Fujiwara et al, 1992;Schuffenhauer et al, 1992;Callen et al, 1993;Doco-Fenzy et al, 1994;Khan et al, 2006]. These patients show some overlapped phenotypes, including small birth weight, postnatal growth delay, psychomotor delay, high forehead, flat nasal bridge, hypertelorism, and other visceral malformations.…”

16q21 is critical for 16q deletion syndrome

“…Deletions of the long arm of chromosome 16 are uncommon. Since Fryns et al (1977) described the first patient with a terminal deletion of the long arm of chromosome 16, nine other such patients with a similar dysmorphic phenotype and/or a deletion of chromosome 16q have been reported (Fryns et al 1977, Taysi et al 1978, Fryns et al 1979, Cote et al 1980, Fryns et al 1981, Lin et al 1983, Elder et al 1984, Rivera et al 1985and Cooke et al 1987. Fryns et al (1981) proposed a causal relationship between the peculiar phenotypic anomalies and the 16q deletion, and this was supported by Lin et al (1983).…”