Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter

Abstract

We report the case of a boy with a de novo partial monosomy 16p13-pter and partial trisomy 16q22-qter detected by fluorescence in situ hybridization using subtelomeric probes for 16p and 16q. The boy had facial characteristics, skeletal features, congenital heart defects, an imperforate anus, urogenital malformations, pre/postnatal growth retardation, and psychomotor retardation, most of which have been reported both in partial monosomy 16p and partial trisomy 16q. In addition, he suffered from upper airway stenosis due to possible laryngeal stenosis with subglottic webs. The upper airway stenosis could be a rare complication of partial monosomy 16p or partial trisomy 16q, or a nonspecific malformation resulting from chromosomal abnormalities.

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

“…The clinical features in the patient presented here are comparable with the previously reported findings for large segment 16q trisomies. Our data, similarly to earlier reports (Bacino et al, 1999; Chen et al, 2016; de Carvalho et al, 2010; Dikmetas et al, 2012; Laus et al, 2012; Mishra et al, 2018; Papadopoulou et al, 2017; Pérez‐Castillo et al, 1990; Yamada et al, 2009; Yue et al, 2019), show a near‐universal presence of hypotonia; IUGR; characteristic facial dysmorphism (small palpebral fissures, periorbital fullness, bulbous nose with flat nasal bridge, retrognathia); dysplastic ears; high incidence of limb contractures, genitourinary anomalies, and congenital heart defects (Table 1). Comparing longer partial trisomies (Table 2, 16q11 → qter and 16q21 → qter) to more distal partial trisomies (16q22 → qter and 16q24 → qter), we found similar frequency of IUGR, hypotonia (both 50%–70%), ear dysplasia (70%–90%), and facial characteristics (smooth philtrum, thin upper lip, and micrognathia) (Table 1).…”

“…Our data, similarly to earlier reports (Bacino et al, 1999;Chen et al, 2016;de Carvalho et al, 2010;Dikmetas et al, 2012;Laus et al, 2012;Mishra et al, 2018;Papadopoulou et al, 2017;Pérez-Castillo et al, 1990;Yamada et al, 2009;Yue et al, 2019), show a near-universal presence of hypotonia; IUGR; characteristic facial dysmorphism (small palpebral fissures, periorbital fullness, bulbous nose with flat nasal bridge, retrognathia); dysplastic ears; high incidence of limb contractures, genitourinary anomalies, and congenital heart defects (Table 1). Comparing longer partial trisomies (Table 2, 16q11!qter and 16q21!qter) to more distal partial trisomies (16q22!qter and 16q24!qter), we found similar frequency of IUGR, hypotonia (both 50%-70%), ear dysplasia (70%-90%), and facial characteristics (smooth philtrum, thin upper lip, and micrognathia) (Eggermann et al, 1998;Hahm et al, 1987;Nevin et al, 1983;Ridler & McKeown, 1979); q12!qter: (Chen et al, 2003;Paladini et al, 1999); q13!qter: (Buckton & Barr, 1981;Davison & Beesley, 1984;Dowman et al, 1989;Hatanaka et al, 1984;Luberda-Zapa snik et al, 1995); q21!qter: (Balestrazzi et al, 1979;Calva et al, 1984;…”

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

“…The clinical features in the patient presented here are comparable with the previously reported findings for large segment 16q trisomies. Our data, similarly to earlier reports (Bacino et al, 1999; Chen et al, 2016; de Carvalho et al, 2010; Dikmetas et al, 2012; Laus et al, 2012; Mishra et al, 2018; Papadopoulou et al, 2017; Pérez‐Castillo et al, 1990; Yamada et al, 2009; Yue et al, 2019), show a near‐universal presence of hypotonia; IUGR; characteristic facial dysmorphism (small palpebral fissures, periorbital fullness, bulbous nose with flat nasal bridge, retrognathia); dysplastic ears; high incidence of limb contractures, genitourinary anomalies, and congenital heart defects (Table 1). Comparing longer partial trisomies (Table 2, 16q11 → qter and 16q21 → qter) to more distal partial trisomies (16q22 → qter and 16q24 → qter), we found similar frequency of IUGR, hypotonia (both 50%–70%), ear dysplasia (70%–90%), and facial characteristics (smooth philtrum, thin upper lip, and micrognathia) (Table 1).…”

“…Our data, similarly to earlier reports (Bacino et al, 1999;Chen et al, 2016;de Carvalho et al, 2010;Dikmetas et al, 2012;Laus et al, 2012;Mishra et al, 2018;Papadopoulou et al, 2017;Pérez-Castillo et al, 1990;Yamada et al, 2009;Yue et al, 2019), show a near-universal presence of hypotonia; IUGR; characteristic facial dysmorphism (small palpebral fissures, periorbital fullness, bulbous nose with flat nasal bridge, retrognathia); dysplastic ears; high incidence of limb contractures, genitourinary anomalies, and congenital heart defects (Table 1). Comparing longer partial trisomies (Table 2, 16q11!qter and 16q21!qter) to more distal partial trisomies (16q22!qter and 16q24!qter), we found similar frequency of IUGR, hypotonia (both 50%-70%), ear dysplasia (70%-90%), and facial characteristics (smooth philtrum, thin upper lip, and micrognathia) (Eggermann et al, 1998;Hahm et al, 1987;Nevin et al, 1983;Ridler & McKeown, 1979); q12!qter: (Chen et al, 2003;Paladini et al, 1999); q13!qter: (Buckton & Barr, 1981;Davison & Beesley, 1984;Dowman et al, 1989;Hatanaka et al, 1984;Luberda-Zapa snik et al, 1995); q21!qter: (Balestrazzi et al, 1979;Calva et al, 1984;…”

Phenotypic diversity of patients diagnosed with VACTERL association

“…Cytogenetic and molecular testing thus continue to provide potentially explanatory genomic causes in patients with VATER/VACTERL association, though it may be likely that multiple interacting genetic and environmental factors contribute to the VACTERL association phenotype (Aynaci, Celep, Karagüzel, Baki, & Yildiran, ; de Jong et al, ; Dworschak et al, ; Hilger et al, ; McNeal, Skoglund, & Francke, ; Peddibhotla et al, ; Schramm et al, ; Solomon et al, ; Walsh, Vance, & Weaver, ; Yamada et al, ; Zen et al, ). Although a possible causal relationship has been proposed between malformations observed in VACTERL association and maternal diabetes (Becerra, Khoury, Cordero, & Erickson, ; Castori, Rinaldi, Capocaccia, Roggini, & Grammatico, ; Janssen, Rothman, & Schwartz, ; Mills, ; Pedersen, Tygstrup, & Pedersen, ), our study cannot substantiate this hypothesis.…”

Oral and Physical Manifestations of a Patient with Trisomy 16: Report of an Unusual Case

“…In the current clinic case, a patient with agenesis of the upper lateral incisors, ankyloglossia, over-inserted labial ffenulum and high and arched palate was described; these are special stomatological clinical characteristics. Keitaro [8] and collaborators presented a case of a child with trisomy 16, detected by fluorescence in situ hybridization using subtelomeric probes; the patient had abnormal skeletal and facial features, congenital heart defects, imperforate anus, urogenital malformations, delayed postnatal growth and psychomotor retardation.…”

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

“…The clinical features in the patient presented here are comparable with the previously reported findings for large segment 16q trisomies. Our data, similarly to earlier reports (Bacino et al, 1999; Chen et al, 2016; de Carvalho et al, 2010; Dikmetas et al, 2012; Laus et al, 2012; Mishra et al, 2018; Papadopoulou et al, 2017; Pérez‐Castillo et al, 1990; Yamada et al, 2009; Yue et al, 2019), show a near‐universal presence of hypotonia; IUGR; characteristic facial dysmorphism (small palpebral fissures, periorbital fullness, bulbous nose with flat nasal bridge, retrognathia); dysplastic ears; high incidence of limb contractures, genitourinary anomalies, and congenital heart defects (Table 1). Comparing longer partial trisomies (Table 2, 16q11 → qter and 16q21 → qter) to more distal partial trisomies (16q22 → qter and 16q24 → qter), we found similar frequency of IUGR, hypotonia (both 50%–70%), ear dysplasia (70%–90%), and facial characteristics (smooth philtrum, thin upper lip, and micrognathia) (Table 1).…”

“…Our data, similarly to earlier reports (Bacino et al, 1999;Chen et al, 2016;de Carvalho et al, 2010;Dikmetas et al, 2012;Laus et al, 2012;Mishra et al, 2018;Papadopoulou et al, 2017;Pérez-Castillo et al, 1990;Yamada et al, 2009;Yue et al, 2019), show a near-universal presence of hypotonia; IUGR; characteristic facial dysmorphism (small palpebral fissures, periorbital fullness, bulbous nose with flat nasal bridge, retrognathia); dysplastic ears; high incidence of limb contractures, genitourinary anomalies, and congenital heart defects (Table 1). Comparing longer partial trisomies (Table 2, 16q11!qter and 16q21!qter) to more distal partial trisomies (16q22!qter and 16q24!qter), we found similar frequency of IUGR, hypotonia (both 50%-70%), ear dysplasia (70%-90%), and facial characteristics (smooth philtrum, thin upper lip, and micrognathia) (Eggermann et al, 1998;Hahm et al, 1987;Nevin et al, 1983;Ridler & McKeown, 1979); q12!qter: (Chen et al, 2003;Paladini et al, 1999); q13!qter: (Buckton & Barr, 1981;Davison & Beesley, 1984;Dowman et al, 1989;Hatanaka et al, 1984;Luberda-Zapa snik et al, 1995); q21!qter: (Balestrazzi et al, 1979;Calva et al, 1984;…”

Phenotypic diversity of patients diagnosed with VACTERL association

“…Cytogenetic and molecular testing thus continue to provide potentially explanatory genomic causes in patients with VATER/VACTERL association, though it may be likely that multiple interacting genetic and environmental factors contribute to the VACTERL association phenotype (Aynaci, Celep, Karagüzel, Baki, & Yildiran, ; de Jong et al, ; Dworschak et al, ; Hilger et al, ; McNeal, Skoglund, & Francke, ; Peddibhotla et al, ; Schramm et al, ; Solomon et al, ; Walsh, Vance, & Weaver, ; Yamada et al, ; Zen et al, ). Although a possible causal relationship has been proposed between malformations observed in VACTERL association and maternal diabetes (Becerra, Khoury, Cordero, & Erickson, ; Castori, Rinaldi, Capocaccia, Roggini, & Grammatico, ; Janssen, Rothman, & Schwartz, ; Mills, ; Pedersen, Tygstrup, & Pedersen, ), our study cannot substantiate this hypothesis.…”

Oral and Physical Manifestations of a Patient with Trisomy 16: Report of an Unusual Case

“…In the current clinic case, a patient with agenesis of the upper lateral incisors, ankyloglossia, over-inserted labial ffenulum and high and arched palate was described; these are special stomatological clinical characteristics. Keitaro [8] and collaborators presented a case of a child with trisomy 16, detected by fluorescence in situ hybridization using subtelomeric probes; the patient had abnormal skeletal and facial features, congenital heart defects, imperforate anus, urogenital malformations, delayed postnatal growth and psychomotor retardation.…”

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

“…The clinical features in the patient presented here are comparable with the previously reported findings for large segment 16q trisomies. Our data, similarly to earlier reports (Bacino et al, 1999; Chen et al, 2016; de Carvalho et al, 2010; Dikmetas et al, 2012; Laus et al, 2012; Mishra et al, 2018; Papadopoulou et al, 2017; Pérez‐Castillo et al, 1990; Yamada et al, 2009; Yue et al, 2019), show a near‐universal presence of hypotonia; IUGR; characteristic facial dysmorphism (small palpebral fissures, periorbital fullness, bulbous nose with flat nasal bridge, retrognathia); dysplastic ears; high incidence of limb contractures, genitourinary anomalies, and congenital heart defects (Table 1). Comparing longer partial trisomies (Table 2, 16q11 → qter and 16q21 → qter) to more distal partial trisomies (16q22 → qter and 16q24 → qter), we found similar frequency of IUGR, hypotonia (both 50%–70%), ear dysplasia (70%–90%), and facial characteristics (smooth philtrum, thin upper lip, and micrognathia) (Table 1).…”

“…Our data, similarly to earlier reports (Bacino et al, 1999;Chen et al, 2016;de Carvalho et al, 2010;Dikmetas et al, 2012;Laus et al, 2012;Mishra et al, 2018;Papadopoulou et al, 2017;Pérez-Castillo et al, 1990;Yamada et al, 2009;Yue et al, 2019), show a near-universal presence of hypotonia; IUGR; characteristic facial dysmorphism (small palpebral fissures, periorbital fullness, bulbous nose with flat nasal bridge, retrognathia); dysplastic ears; high incidence of limb contractures, genitourinary anomalies, and congenital heart defects (Table 1). Comparing longer partial trisomies (Table 2, 16q11!qter and 16q21!qter) to more distal partial trisomies (16q22!qter and 16q24!qter), we found similar frequency of IUGR, hypotonia (both 50%-70%), ear dysplasia (70%-90%), and facial characteristics (smooth philtrum, thin upper lip, and micrognathia) (Eggermann et al, 1998;Hahm et al, 1987;Nevin et al, 1983;Ridler & McKeown, 1979); q12!qter: (Chen et al, 2003;Paladini et al, 1999); q13!qter: (Buckton & Barr, 1981;Davison & Beesley, 1984;Dowman et al, 1989;Hatanaka et al, 1984;Luberda-Zapa snik et al, 1995); q21!qter: (Balestrazzi et al, 1979;Calva et al, 1984;…”

Phenotypic diversity of patients diagnosed with VACTERL association

“…Cytogenetic and molecular testing thus continue to provide potentially explanatory genomic causes in patients with VATER/VACTERL association, though it may be likely that multiple interacting genetic and environmental factors contribute to the VACTERL association phenotype (Aynaci, Celep, Karagüzel, Baki, & Yildiran, ; de Jong et al, ; Dworschak et al, ; Hilger et al, ; McNeal, Skoglund, & Francke, ; Peddibhotla et al, ; Schramm et al, ; Solomon et al, ; Walsh, Vance, & Weaver, ; Yamada et al, ; Zen et al, ). Although a possible causal relationship has been proposed between malformations observed in VACTERL association and maternal diabetes (Becerra, Khoury, Cordero, & Erickson, ; Castori, Rinaldi, Capocaccia, Roggini, & Grammatico, ; Janssen, Rothman, & Schwartz, ; Mills, ; Pedersen, Tygstrup, & Pedersen, ), our study cannot substantiate this hypothesis.…”

Oral and Physical Manifestations of a Patient with Trisomy 16: Report of an Unusual Case

“…In the current clinic case, a patient with agenesis of the upper lateral incisors, ankyloglossia, over-inserted labial ffenulum and high and arched palate was described; these are special stomatological clinical characteristics. Keitaro [8] and collaborators presented a case of a child with trisomy 16, detected by fluorescence in situ hybridization using subtelomeric probes; the patient had abnormal skeletal and facial features, congenital heart defects, imperforate anus, urogenital malformations, delayed postnatal growth and psychomotor retardation.…”