American Journal of Medical Genetics: Vol 108, No 3

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“Mowat-Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

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Identification of de novo chromosome rearrangements: Five cases analyzed with differential chromosome painting

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Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy

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Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat)

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Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay

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A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome

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Absence of thumbs, a/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation ^†

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Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy)

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Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene

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ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

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Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)

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PAGOD syndrome: Eighth case and comparison to animal models of congenital vitamin A deficiency

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Familial digital arthropathy-brachydactyly

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A deletion–insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia ^†

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Septo-optic dysplasia and digital anomalies: Another observation

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Frontometaphyseal dysplasia: Patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms

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Psoriasis vulgaris in a male with partial deletion 18p

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Nowadays it is preceptive to perform chromosomal studies with high resolution G-bands and FISH techniques when necessary

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Reply to correspondence from Martínez-Frías et al.—“Nowadays it is preceptive to perform chromosomal studies with high resolution G-bands and FISH techniques when necessary”

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American Journal of Medical Genetics: Volume 108, Issue 3

“Mowat-Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

Identification of de novo chromosome rearrangements: Five cases analyzed with differential chromosome painting

Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat)

Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay

A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome

Absence of thumbs, a/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation ^†

Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy)

Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)

PAGOD syndrome: Eighth case and comparison to animal models of congenital vitamin A deficiency

Familial digital arthropathy-brachydactyly

A deletion–insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia ^†

Septo-optic dysplasia and digital anomalies: Another observation

Frontometaphyseal dysplasia: Patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms

Psoriasis vulgaris in a male with partial deletion 18p

Nowadays it is preceptive to perform chromosomal studies with high resolution G-bands and FISH techniques when necessary

Reply to correspondence from Martínez-Frías et al.—“Nowadays it is preceptive to perform chromosomal studies with high resolution G-bands and FISH techniques when necessary”

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American Journal of Medical Genetics

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American Journal of Medical Genetics: Volume 108, Issue 3

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“Mowat-Wilson” syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

Identification of de novo chromosome rearrangements: Five cases analyzed with differential chromosome painting

Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat)

Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay

A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome

Absence of thumbs, a/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation†

Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy)

Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)

PAGOD syndrome: Eighth case and comparison to animal models of congenital vitamin A deficiency

Familial digital arthropathy-brachydactyly

A deletion–insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia†

Septo-optic dysplasia and digital anomalies: Another observation

Frontometaphyseal dysplasia: Patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms

Psoriasis vulgaris in a male with partial deletion 18p

Nowadays it is preceptive to perform chromosomal studies with high resolution G-bands and FISH techniques when necessary

Reply to correspondence from Martínez-Frías et al.—“Nowadays it is preceptive to perform chromosomal studies with high resolution G-bands and FISH techniques when necessary”

Tools

More from this journal

Absence of thumbs, a/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation ^†

A deletion–insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia ^†