Congenital diaphragmatic hernia in a patient with tetrasomy 9p

Abstract

Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting in a well clinically recognized syndrome. In our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cytogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm: 47, XX, +i (9p). Because chromosome 9 contains several gene locus for enzymes and receptors of the retinoid pathway, this case potentially contributes to retinoid hypothesis in the etiology of congenital diaphragmatic hernia. D

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

“… 1 Patient 3, 6 and 11, and previously reported ones [Rutten et al, ; Orye et al, ; Moedjono et al, ; McDowall et al, ; Schaefer et al, ; Leichtman et al, ; Eggermann et al, ; Garcia‐Cruz et al, ; de Azevedo Moreira et al, 2003; Lloveras et al, ; Tang et al, ; Henriques‐Coelho et al, ; McAuliffe et al, ; Ogino et al, ; Nakamura‐Pereira et al, ; Shehab et al, ; Papoulidis et al, ].…”

“…Based on published reports, the prognosis of T9p is poor: 18/43 patients born alive died during the first year of life, among which 15 died before 3 months. All deceased patients had homogenous T9p in lymphocytes [Ghymers et al, ; Wisniewski et al, ; Moedjono et al, ; Shapiro et al, ; Cavalcanti et al, ; Calvieri et al, ; Jalal et al, ; Schaefer et al, ; Melaragno et al, ; Leichtman et al, ; Dhandha et al, ; de Azevedo Moreira et al, ; Tang et al, ; Henriques‐Coelho et al, ] and/or amniotic fluid when T9p was diagnosed prenatally and pregnancy leads to birth [Park et al, ; Dhandha et al, ; Tang et al, ; Nakamura‐Pereira et al, ]. Eight patients were tested for a distinct tissue and the marker was present in all cells for five of them [Ghymers et al, ; Calvieri et al, ; Jalal et al, ; Schaefer et al, ; Melaragno et al, ; Park et al, ; Tang et al, ].…”

“…Fifty‐four cases have been reported in 40 years [Ghymers et al, ; Rutten et al, ; Orye et al, ; Abe et al, ; Wisniewski et al, ; Moedjono et al, ; Cuoco et al, ; Garcia‐Cruz et al, ; Peters et al, ; Balestrazzi et al, ; Shapiro et al, ; Cavalcanti et al, ; Calvieri et al, ; McDowall et al, ; Nakamura et al, ; Papenhausen et al, ; Jalal et al, ; Schaefer et al, ; Melaragno et al, ; Grass et al, ; Andou et al, ; Van Hove et al, ; Park et al, ; Leichtman et al, ; Tonk ; Dutly et al, ; Eggermann et al, ; Stumm et al, ; Dhandha et al, ; Cazorla et al, ; Cazorla Calleja et al, 2003; de et al, 2003; de Azevedo Moreira et al, 2003; Deurloo et al, ; Hengstschlager et al, ; Lloveras et al, ; Tang et al, ; Henriques‐Coelho et al, ; McAuliffe et al, ; Chen et al, ; Ogino et al, ; Tan et al, ; Coman et al, ; di Vera et al, ; Nakamura‐Pereira et al, ; Podolsky et al, ; Shehab et al, ; Chen et al, ; Papoulidis et al, ; Chen et al, ], among which 20 were prenatally diagnosed [McDowall et al, ; Grass et al, ; Van Hove et al, ; Park et al, ; Dutly et al, ; Eggermann et al, ; Dhandha et al, ; Cazorla Calleja et al, ; Deurloo et al, ; Hengstschlager et al, ; Tang et al, ; Chen et al, ; Tan et al, ; Coman et al, <...>…”

Prenatal diagnosis and findings of tetrasomy 9p

“…The abnormalities included were: intrauterine growth retardation, oligohydramnios, polyhydramnios, ventriculomegaly, agenesis of the corpus callosum, hypoplastic/absent vermis, cleft lip/palate, vertebral anomaly, cardiac anomaly, urogenital anomaly, and limb malformation. Since then additional sonographic abnormalities have been reported in sporadic case reports and include: absent nasal bone, congenital diaphragmatic hernia, and thickened nuchal translucency on a first‐trimester ultrasound study . One needs to be cognizant of the fact that the sonographic abnormalities tend to represent a spectrum of abnormal findings and may vary among cases.…”

A systematic clinical review of prenatally diagnosed tetrasomy 9p

“…Especially in the later years, the detection rate of tetrasomy 9p increased with better fetal monitoring and more accessible prenatal diagnostics. Fourteen cases were reported in last 3 years [4,5,6,7], detected using microarrays in comparison with 53 cases reported from 1973 to 2015 using GTG banding and/or fluorescent in situ hybridization (FISH), analysis [1,2,3,8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52].…”